Variant report

Variant	rs9261305
Chromosome Location	chr6:30043764-30043765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:30043594-30043844	Fibrobl	skin:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
2	RAD21	chr6:30043365-30044179	HCT-116	colon:	n/a	chr6:30043718-30043727 chr6:30043714-30043733
3	CTCF	chr6:30043603-30043787	GM13976	blood:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
4	ZBTB7A	chr6:30043558-30043988	HepG2	liver:	n/a	chr6:30043721-30043730
5	FOSL1	chr6:30043475-30044269	HCT-116	colon:	n/a	n/a
6	YY1	chr6:30043653-30043773	K562	blood:	n/a	n/a
7	CTCF	chr6:30043680-30043830	NHEK	skin:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
8	GATA3	chr6:30043337-30043994	T-47D	breast:	n/a	n/a
9	CTCF	chr6:30043545-30043894	K562	blood:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
10	E2F6	chr6:30042453-30043862	H1-hESC	embryonic stem cell:	n/a	chr6:30042626-30042636
11	EP300	chr6:30043448-30043777	T-47D	breast:	n/a	n/a
12	NFIC	chr6:30043475-30044216	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr6:30043610-30043830	HepG2	liver:	n/a	chr6:30043718-30043727 chr6:30043714-30043733
14	CTCF	chr6:30043720-30043870	GM06990	blood:	n/a	n/a
15	CTCF	chr6:30043555-30043814	Medullo	brain:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
16	CTCF	chr6:30043620-30043770	HEEpiC	esophagus:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
17	CTCF	chr6:30043700-30043850	Caco-2	colon:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
18	RAD21	chr6:30043621-30043795	K562	blood:	n/a	chr6:30043718-30043727 chr6:30043714-30043733
19	FOXA1	chr6:30043341-30043825	T-47D	breast:	n/a	n/a
20	CTCF	chr6:30043606-30043825	HepG2	liver:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
21	CTCF	chr6:30043620-30043770	HCM	heart:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
22	CTCF	chr6:30043660-30043810	HepG2	liver:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
23	CTCF	chr6:30043640-30043790	HCM	heart:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
24	CEBPB	chr6:30043455-30043840	ECC-1	luminal epithelium:	n/a	n/a
25	MBD4	chr6:30043331-30043845	HepG2	liver:	n/a	n/a
26	GTF2F1	chr6:30043693-30043879	H1-hESC	embryonic stem cell:	n/a	n/a
27	STAT3	chr6:30043488-30043797	MCF10A-Er-Src	breast:	n/a	n/a
28	CEBPB	chr6:30043432-30043999	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr6:30043620-30043770	GM12868	blood:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
30	CTCF	chr6:30043482-30043901	HepG2	liver:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
31	SMC3	chr6:30043511-30043852	HepG2	liver:	n/a	chr6:30043715-30043729
32	CTCF	chr6:30043614-30043835	GM12892	blood:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
33	CTCF	chr6:30043620-30043770	HRPEpiC	eye:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
34	JUND	chr6:30043682-30044032	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr6:30043620-30043770	HCPEpiC	choroid plexus:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
36	POLR2A	chr6:30043201-30043900	MCF-7	breast:	n/a	n/a
37	MAX	chr6:30042737-30044172	MCF-7	breast:	n/a	n/a
38	RAD21	chr6:30043489-30043938	HepG2	liver:	n/a	chr6:30043718-30043727 chr6:30043714-30043733
39	CTCF	chr6:30043680-30043830	HEK293	kidney:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
40	CTCF	chr6:30043640-30043790	A549	lung:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
41	CTCF	chr6:30043620-30043770	HAc	cerebellar:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
42	MXI1	chr6:30043545-30043807	H1-hESC	embryonic stem cell:	n/a	n/a
43	GATA3	chr6:30043232-30044121	MCF-7	breast:	n/a	n/a
44	CTCF	chr6:30043680-30043830	HA-sp	spinal cord:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
45	ELF1	chr6:30043332-30044201	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:30043574-30043873	K562	blood:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
47	CTCF	chr6:30043620-30043770	GM12869	blood:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730
48	MAX	chr6:30042723-30044117	HepG2	liver:	n/a	n/a
49	ZBTB7A	chr6:30043493-30044059	ECC-1	luminal epithelium:	n/a	chr6:30043721-30043730
50	CTCF	chr6:30043620-30043770	RPTEC	kidney:	n/a	chr6:30043715-30043736 chr6:30043713-30043731 chr6:30043718-30043726 chr6:30043714-30043730

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30043727-30043777	NHDF-neo	bronchial:	n/a
2	chr6:30043727-30043777	HCF	heart:	n/a
3	chr6:30043727-30043777	K562	blood:	n/a
4	chr6:30043727-30043777	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:30043727-30043777	RPTEC	kidney:	n/a
6	chr6:30043727-30043777	ovcar-3	ovarian:	n/a
7	chr6:30043727-30043777	H1-hESC	embryonic stem cell:	embryo
8	chr6:30043727-30043777	Hepatocyte	liver:	n/a
9	chr6:30043727-30043777	HRPEpiC	eye:	n/a
10	chr6:30043727-30043777	PFSK-1	brain:	n/a
11	chr6:30043727-30043777	GM12878	blood:	n/a
12	chr6:30043727-30043777	Caco-2	colon:	n/a
13	chr6:30043727-30043777	AG04449	skin:	fetal
14	chr6:30043727-30043777	GM12891	blood:	n/a
15	chr6:30043727-30043777	NHBE	bronchial:	n/a
16	chr6:30043727-30043777	SK-N-SH_RA	brain:	n/a
17	chr6:30043727-30043777	A549	lung:	n/a
18	chr6:30043727-30043777	NH-A	brain:	n/a
19	chr6:30043727-30043777	BE2_C	brain:	n/a
20	chr6:30043727-30043777	HRE	kidney:	n/a
21	chr6:30043727-30043777	Hela-S3	cervix:	n/a
22	chr6:30043727-30043777	ProgFib	skin:	n/a
23	chr6:30043727-30043777	HMEC	breast:	n/a
24	chr6:30043727-30043777	AG10803	skin:	n/a
25	chr6:30043727-30043777	HepG2	liver:	n/a
26	chr6:30043727-30043777	U87	brain:	n/a
27	chr6:30043727-30043777	HEEpiC	esophagus:	n/a
28	chr6:30043727-30043777	NT2-D1	testis:	n/a
29	chr6:30043727-30043777	HCT-116	colon:	n/a
30	chr6:30043727-30043777	NB4	blood:	n/a
31	chr6:30043727-30043777	CMK	blood:	n/a
32	chr6:30043727-30043777	IMR90	lung:	fetal
33	chr6:30043727-30043777	HRCEpiC	kidney:	n/a
34	chr6:30043727-30043777	PrEC	prostate:	n/a
35	chr6:30043727-30043777	HL-60	blood:	n/a
36	chr6:30043727-30043777	AG09309	skin:	n/a
37	chr6:30043727-30043777	HCM	heart:	n/a
38	chr6:30043727-30043777	GM12892	blood:	n/a
39	chr6:30043727-30043777	MCF-7	breast:	n/a
40	chr6:30043727-30043777	AoSMC	blood vessel:	n/a
41	chr6:30043727-30043777	BJ	skin:	n/a
42	chr6:30043727-30043777	ECC-1	luminal epithelium:	n/a
43	chr6:30043727-30043777	SKMC	muscle:	n/a
44	chr6:30043727-30043777	HEK293	kidney:	embryo
45	chr6:30043727-30043777	AG04450	lung:	fetal
46	chr6:30043727-30043777	GM06990	blood:	n/a
47	chr6:30043727-30043777	HCPEpiC	choroid plexus:	n/a
48	chr6:30043727-30043777	AG09319	gingival:	n/a
49	chr6:30043727-30043777	MCF10A-Er-Src	breast:	n/a
50	chr6:30043727-30043777	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30027015..30030813-chr6:30040823..30045193,4	K562	blood:
2	chr6:30041669..30045289-chr6:30052962..30056751,3	MCF-7	breast:
3	chr6:30041884..30044302-chr6:30056325..30059544,3	MCF-7	breast:
4	chr6:30041144..30044066-chr6:30293669..30296230,2	MCF-7	breast:

Variant related genes	Relation type
RNF39	TF binding region
RNF39	CpG island
ENSG00000066379	Chromatin interaction
ENSG00000204623	Chromatin interaction
ENSG00000231074	Chromatin interaction
ENSG00000252901	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000270604	Chromatin interaction

Extended variants
information (count: 200 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:196)

rs_ID	r²[population]
rs1051133	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10745	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1245367	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2107201	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2158288	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2158289	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240067	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3734832	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3734836	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757332	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807036	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823364	0.81[AFR][1000 genomes]
rs3823372	0.81[AFR][1000 genomes]
rs3891156	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3891157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3901554	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs60466513	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6903621	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6904120	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6904969	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6912454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6919438	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6920254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6923832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6924054	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6924097	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6924273	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6925061	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6925856	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7770505	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771476	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7771672	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9260828	0.81[AFR][1000 genomes]
rs9260837	0.81[AFR][1000 genomes]
rs9260860	0.81[AFR][1000 genomes]
rs9260861	0.81[AFR][1000 genomes]
rs9260863	0.81[AFR][1000 genomes]
rs9260865	0.81[AFR][1000 genomes]
rs9260868	0.81[AFR][1000 genomes]
rs9260869	0.81[AFR][1000 genomes]
rs9260870	0.81[AFR][1000 genomes]
rs9260871	0.81[AFR][1000 genomes]
rs9260914	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9260916	0.81[AFR][1000 genomes]
rs9260917	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9260919	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9260921	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9260923	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9260929	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9260930	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9260931	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9260932	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9260933	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9260935	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260936	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260938	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260939	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260941	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260943	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260946	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260948	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260950	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260954	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260957	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260958	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260976	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260981	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260984	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260986	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9260993	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9260998	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261005	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261025	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261027	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9261028	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261029	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261032	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9261034	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9261035	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261036	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261037	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261040	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261041	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261042	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261043	0.85[AFR][1000 genomes]
rs9261044	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261045	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261046	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261056	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261058	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9261059	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261063	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261064	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9261065	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261066	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261068	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261069	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261070	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261071	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261072	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261073	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261075	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261076	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261080	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261082	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261083	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261084	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261085	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261086	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261087	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261088	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261090	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261091	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261093	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261095	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261099	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261101	0.86[EUR][1000 genomes]
rs9261108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261118	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261130	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261131	0.92[ASN][1000 genomes]
rs9261132	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261141	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261146	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261147	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261156	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261158	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261159	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261160	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261171	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261176	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261177	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261179	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261191	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261193	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261207	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261214	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261219	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261220	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261223	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261263	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261270	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261273	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261284	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261287	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261296	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261312	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261314	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261317	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9261359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261360	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261362	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261377	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261379	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261381	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9261382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9261386	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv884049	chr6:30037353-30047403	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9261305	PPP1R11	Cis_1M	lymphoblastoid	RTeQTL
rs9261305	C6orf12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30038400-30044000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:30041800-30044000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr6:30041800-30044200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:30042000-30043800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:30042000-30043800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:30042000-30043800	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr6:30042000-30043800	Bivalent/Poised TSS	Thymus	Thymus
8	chr6:30042000-30044000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:30042000-30044000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:30042000-30044000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:30042000-30044200	Flanking Active TSS	HMEC	breast
12	chr6:30042200-30043800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:30042200-30043800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:30042200-30043800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
15	chr6:30042200-30043800	Flanking Bivalent TSS/Enh	Placenta	Placenta
16	chr6:30042200-30043800	Flanking Active TSS	Pancreas	Pancrea
17	chr6:30042200-30044000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:30042200-30044000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr6:30042200-30044200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:30042200-30044400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr6:30042400-30043800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
22	chr6:30042600-30043800	Bivalent Enhancer	Liver	Liver
23	chr6:30042600-30043800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
24	chr6:30042600-30044000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr6:30042800-30043800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr6:30042800-30043800	Bivalent Enhancer	Spleen	Spleen
27	chr6:30042800-30044400	Bivalent Enhancer	Fetal Thymus	thymus
28	chr6:30043000-30044000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:30043000-30044000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:30043000-30044200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr6:30043000-30044200	Flanking Active TSS	Hela-S3	cervix
32	chr6:30043000-30045800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:30043200-30043800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:30043200-30043800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr6:30043200-30043800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr6:30043200-30044600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:30043200-30045800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:30043200-30045800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr6:30043400-30043800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:30043400-30043800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr6:30043400-30043800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr6:30043400-30043800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr6:30043400-30043800	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
44	chr6:30043400-30044000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr6:30043400-30044000	Enhancers	Lung	lung
46	chr6:30043400-30044000	Enhancers	Ovary	ovary
47	chr6:30043400-30044200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:30043400-30044200	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr6:30043400-30044400	Flanking Active TSS	NHEK	skin
50	chr6:30043400-30045000	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links