Variant report

Variant	rs10737621
Chromosome Location	chr1:193090865-193090866
allele	A/C
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	NANOG	chr1:193090686-193091271	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr1:193090615-193091575	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZBTB33	chr1:193090717-193091351	A549	lung:	n/a	n/a
4	RFX5	chr1:193090778-193091442	GM12878	blood:	n/a	n/a
5	TBP	chr1:193090692-193091591	HepG2	liver:	n/a	n/a
6	RAD21	chr1:193090696-193091749	A549	lung:	n/a	chr1:193091046-193091060 chr1:193091507-193091520 chr1:193091508-193091518 chr1:193091045-193091064
7	ELF1	chr1:193090616-193091440	K562	blood:	n/a	chr1:193091110-193091119
8	RAD21	chr1:193090557-193091884	HCT-116	colon:	n/a	chr1:193091046-193091060 chr1:193091507-193091520 chr1:193091508-193091518 chr1:193091045-193091064
9	YY1	chr1:193090616-193091713	K562	blood:	n/a	chr1:193091107-193091121 chr1:193091113-193091122 chr1:193091110-193091124
10	BCLAF1	chr1:193090613-193091688	GM12878	blood:	n/a	chr1:193091106-193091119 chr1:193091047-193091060
11	POLR2A	chr1:193090613-193091710	HUVEC	blood vessel:	n/a	n/a
12	MAFK	chr1:193090745-193091621	IMR90	lung:	n/a	chr1:193090834-193090845
13	MYC	chr1:193090612-193091833	NB4	blood:	n/a	chr1:193090815-193090830
14	SP4	chr1:193090698-193091368	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBP	chr1:193090758-193091831	GM12878	blood:	n/a	n/a
16	EP300	chr1:193090837-193091272	SK-N-SH_RA	brain:	n/a	chr1:193091049-193091065 chr1:193091047-193091063 chr1:193091110-193091119
17	TCF7L2	chr1:193090630-193091665	Hela-S3	cervix:	n/a	n/a
18	MAX	chr1:193090538-193091629	H1-hESC	embryonic stem cell:	n/a	chr1:193090815-193090830
19	SIN3AK20	chr1:193090597-193091922	K562	blood:	n/a	n/a
20	POLR2A	chr1:193090648-193091789	GM12878	blood:	n/a	n/a
21	SMC3	chr1:193090840-193091823	HepG2	liver:	n/a	chr1:193091508-193091518 chr1:193091049-193091063
22	POLR2A	chr1:193089868-193092218	GM12891	blood:	n/a	n/a
23	MAZ	chr1:193089945-193092145	K562	blood:	n/a	chr1:193090815-193090830
24	MAX	chr1:193090488-193091750	HepG2	liver:	n/a	chr1:193090815-193090830
25	EGR1	chr1:193090711-193091405	K562	blood:	n/a	chr1:193091113-193091123
26	ZNF143	chr1:193090700-193091471	Hela-S3	cervix:	n/a	chr1:193091110-193091120
27	POLR2A	chr1:193090593-193091799	K562	blood:	n/a	n/a
28	TBL1XR1	chr1:193090626-193092239	K562	blood:	n/a	n/a
29	SRF	chr1:193090728-193091239	K562	blood:	n/a	n/a
30	ATF2	chr1:193090559-193091269	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr1:193090584-193091725	K562	blood:	n/a	chr1:193090815-193090830
32	E2F1	chr1:193090707-193091527	Hela-S3	cervix:	n/a	chr1:193091113-193091122 chr1:193091111-193091121
33	RAD21	chr1:193090659-193091781	A549	lung:	n/a	chr1:193091046-193091060 chr1:193091507-193091520 chr1:193091508-193091518 chr1:193091045-193091064
34	EBF1	chr1:193090754-193091786	GM12878	blood:	n/a	chr1:193091547-193091557 chr1:193091546-193091559 chr1:193091548-193091557 chr1:193091546-193091557
35	SIX5	chr1:193090497-193092027	A549	lung:	n/a	n/a
36	POLR2A	chr1:193089736-193091785	K562	blood:	n/a	n/a
37	TFAP2C	chr1:193090701-193091869	Hela-S3	cervix:	n/a	chr1:193091506-193091521
38	MAX	chr1:193090479-193091645	ECC-1	luminal epithelium:	n/a	chr1:193090815-193090830
39	GATA3	chr1:193090737-193091645	T-47D	breast:	n/a	n/a
40	BHLHE40	chr1:193090312-193091791	GM12878	blood:	n/a	chr1:193091108-193091124 chr1:193091104-193091120 chr1:193091105-193091121
41	SIN3AK20	chr1:193090841-193091462	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr1:193090541-193091781	PFSK-1	brain:	n/a	n/a
43	E2F6	chr1:193090650-193091416	K562	blood:	n/a	chr1:193091113-193091122 chr1:193091111-193091121
44	CBX3	chr1:193090544-193091950	K562	blood:	n/a	n/a
45	MYC	chr1:193090655-193091658	Hela-S3	cervix:	n/a	chr1:193090815-193090830
46	YY1	chr1:193090721-193091713	H1-hESC	embryonic stem cell:	n/a	chr1:193091107-193091121 chr1:193091113-193091122 chr1:193091110-193091124
47	MXI1	chr1:193090646-193091979	K562	blood:	n/a	n/a
48	NR3C1	chr1:193090803-193091258	A549	lung:	n/a	n/a
49	CREB1	chr1:193090655-193091421	ECC-1	luminal epithelium:	n/a	n/a
50	NRF1	chr1:193090782-193090982	K562	blood:	n/a	chr1:193090909-193090918 chr1:193090911-193090922

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:193090821-193090871	U87	brain:	n/a
2	chr1:193090821-193090871	PrEC	prostate:	n/a
3	chr1:193090821-193090871	AG04449	skin:	fetal
4	chr1:193090821-193090871	SKMC	muscle:	n/a
5	chr1:193090821-193090871	PANC-1	pancreas:	n/a
6	chr1:193090821-193090871	K562	blood:	n/a
7	chr1:193090821-193090871	NHBE	bronchial:	n/a
8	chr1:193090821-193090871	AG10803	skin:	n/a
9	chr1:193090821-193090871	SAEC	small airway:	n/a
10	chr1:193090821-193090871	HRE	kidney:	n/a
11	chr1:193090821-193090871	HCF	heart:	n/a
12	chr1:193090821-193090871	GM12892	blood:	n/a
13	chr1:193090821-193090871	H1-hESC	embryonic stem cell:	embryo
14	chr1:193090821-193090871	A549	lung:	n/a
15	chr1:193090821-193090871	BE2_C	brain:	n/a
16	chr1:193090821-193090871	HEEpiC	esophagus:	n/a
17	chr1:193090821-193090871	HMEC	breast:	n/a
18	chr1:193090821-193090871	PFSK-1	brain:	n/a
19	chr1:193090821-193090871	IMR90	lung:	fetal
20	chr1:193090821-193090871	Hela-S3	cervix:	n/a
21	chr1:193090821-193090871	HCPEpiC	choroid plexus:	n/a
22	chr1:193090821-193090871	AoSMC	blood vessel:	n/a
23	chr1:193090821-193090871	HL-60	blood:	n/a
24	chr1:193090821-193090871	NT2-D1	testis:	n/a
25	chr1:193090821-193090871	SK-N-MC	brain:	n/a
26	chr1:193090821-193090871	CMK	blood:	n/a
27	chr1:193090821-193090871	AG09309	skin:	n/a
28	chr1:193090821-193090871	HRPEpiC	eye:	n/a
29	chr1:193090821-193090871	HCT-116	colon:	n/a
30	chr1:193090821-193090871	GM19239	blood:	n/a
31	chr1:193090821-193090871	ECC-1	luminal epithelium:	n/a
32	chr1:193090821-193090871	GM12891	blood:	n/a
33	chr1:193090821-193090871	MCF10A-Er-Src	breast:	n/a
34	chr1:193090821-193090871	HNPCEpiC	eye:	n/a
35	chr1:193090821-193090871	HIPEpiC	eye:	n/a
36	chr1:193090821-193090871	AG04450	lung:	fetal
37	chr1:193090821-193090871	NB4	blood:	n/a
38	chr1:193090821-193090871	GM12878	blood:	n/a
39	chr1:193090821-193090871	NHDF-neo	bronchial:	n/a
40	chr1:193090821-193090871	GM06990	blood:	n/a
41	chr1:193090821-193090871	Hepatocyte	liver:	n/a
42	chr1:193090821-193090871	BJ	skin:	n/a
43	chr1:193090821-193090871	HRCEpiC	kidney:	n/a
44	chr1:193090821-193090871	RPTEC	kidney:	n/a
45	chr1:193090821-193090871	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:193090821-193090871	HepG2	liver:	n/a
47	chr1:193090821-193090871	SK-N-SH_RA	brain:	n/a
48	chr1:193090821-193090871	MCF-7	breast:	n/a
49	chr1:193090821-193090871	Caco-2	colon:	n/a
50	chr1:193090821-193090871	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:193074180..193075233-chr1:193090769..193091716,3	Hela-S3	cervix:
2	chr1:193074299..193075126-chr1:193090691..193091321,4	K562	blood:
3	chr1:193025655..193031465-chr1:193087281..193093381,17	MCF-7	breast:
4	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
5	chr1:193073789..193075142-chr1:193090301..193091722,13	MCF-7	breast:
6	chr1:193074307..193075074-chr1:193090815..193091851,7	MCF-7	breast:
7	chr1:193058724..193061368-chr1:193089881..193091482,2	MCF-7	breast:
8	chr1:193090705..193091372-chr6:26026962..26027890,2	HCT-116	colon:
9	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
10	chr1:193074126..193075410-chr1:193090821..193091752,7	MCF-7	breast:
11	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
12	chr1:193090572..193091349-chrX:40439702..40440665,2	Hela-S3	cervix:
13	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
14	chr1:193090572..193091307-chr6:86388342..86389319,2	Hela-S3	cervix:
15	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
16	chr1:193074154..193074843-chr1:193090653..193091665,4	HCT-116	colon:
17	chr1:193073395..193075181-chr1:193090593..193091565,9	MCF-7	breast:
18	chr1:192778197..192780684-chr1:193088490..193091041,2	K562	blood:
19	chr1:193025349..193030732-chr1:193089240..193093287,15	MCF-7	breast:

Variant related genes	Relation type
CDC73	TF binding region
CDC73	CpG island
ENSG00000221680	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000023572	Chromatin interaction
ENSG00000182220	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000272579	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000116741	Chromatin interaction
ENSG00000124529	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10399607	0.84[ASN][1000 genomes]
rs10399929	0.84[ASN][1000 genomes]
rs10494674	0.88[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10732293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10733078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10737620	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10737622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10754044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10754046	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10754047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10754048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10754049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10754052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10754053	0.85[ASN][1000 genomes]
rs10801173	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10801174	1.00[CEU][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10801175	0.87[ASN][1000 genomes]
rs10801177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801178	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10801179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10801180	0.94[ASN][1000 genomes]
rs10801182	0.94[ASN][1000 genomes]
rs10801183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10801184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10801187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10801188	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10801189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10921305	0.81[ASN][1000 genomes]
rs10921308	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10921310	0.90[ASN][1000 genomes]
rs10921312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10921313	0.90[ASN][1000 genomes]
rs10921317	0.97[ASN][1000 genomes]
rs10921318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10921319	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10921323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10921325	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10921326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10921330	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11577299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11583763	0.81[ASN][1000 genomes]
rs12086884	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12090626	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12126529	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12137318	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12141392	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12145057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12410213	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12735445	0.82[ASN][1000 genomes]
rs1325197	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1408830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1536097	0.86[ASN][1000 genomes]
rs1536098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1536099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1539724	0.90[CEU][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1555555	0.83[ASN][1000 genomes]
rs1890660	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2181408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2182106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2186016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2275444	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2370028	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2370029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2370079	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3738244	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3753948	0.84[ASN][1000 genomes]
rs3806351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3818865	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3820417	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3945872	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4379660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4450000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4466634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4657744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4657745	0.94[ASN][1000 genomes]
rs4657840	0.81[ASN][1000 genomes]
rs4657842	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4657843	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4657845	0.90[ASN][1000 genomes]
rs4657846	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4658079	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs569656	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6428151	0.97[ASN][1000 genomes]
rs6428152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6428153	0.86[ASN][1000 genomes]
rs6428154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6428155	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6428156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6428157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6428159	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6663162	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6663431	0.86[ASN][1000 genomes]
rs6665069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6665666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6671237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6673271	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6675833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6676322	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6676416	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6676878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6680224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6692342	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6692805	0.81[ASN][1000 genomes]
rs6697079	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs6703727	0.90[ASN][1000 genomes]
rs693519	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7514072	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7515024	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7518792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7519242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7542466	0.87[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7545223	0.84[ASN][1000 genomes]
rs7546869	0.82[CEU][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7547615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7553247	0.85[ASN][1000 genomes]
rs7554925	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs817140	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs843844	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs912070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs912071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9427838	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9783104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193087600-193092800	Active TSS	K562	blood
2	chr1:193090000-193092000	Active TSS	Fetal Brain Female	brain
3	chr1:193090000-193092200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:193090000-193092400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:193090200-193091200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:193090200-193091600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
7	chr1:193090200-193091800	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr1:193090200-193091800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:193090200-193091800	Active TSS	Adipose Nuclei	Adipose
10	chr1:193090200-193091800	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr1:193090200-193092000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:193090200-193092000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr1:193090200-193092000	Active TSS	Stomach Smooth Muscle	stomach
14	chr1:193090200-193092200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:193090200-193092200	Active TSS	Fetal Brain Male	brain
16	chr1:193090200-193092400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:193090200-193092400	Active TSS	Fetal Muscle Leg	muscle
18	chr1:193090200-193092400	Active TSS	Psoas Muscle	Psoas
19	chr1:193090200-193092600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:193090200-193092600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:193090200-193092600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:193090200-193092600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:193090200-193092600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:193090200-193092600	Active TSS	Osteobl	bone
25	chr1:193090200-193092800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:193090200-193092800	Active TSS	Brain Angular Gyrus	brain
27	chr1:193090200-193092800	Active TSS	Fetal Kidney	kidney
28	chr1:193090200-193092800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:193090200-193092800	Active TSS	Rectal Smooth Muscle	rectum
30	chr1:193090200-193093000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr1:193090200-193093000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:193090200-193093000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:193090200-193093600	Active TSS	NHDF-Ad	bronchial
34	chr1:193090200-193094000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:193090400-193091000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr1:193090400-193091200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:193090400-193091400	Active TSS	Primary hematopoietic stem cells	blood
38	chr1:193090400-193091800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr1:193090400-193091800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr1:193090400-193091800	Active TSS	Liver	Liver
41	chr1:193090400-193091800	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr1:193090400-193092000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr1:193090400-193092000	Active TSS	Brain Substantia Nigra	brain
44	chr1:193090400-193092200	Active TSS	Duodenum Mucosa	Duodenum
45	chr1:193090400-193092200	Active TSS	Thymus	Thymus
46	chr1:193090400-193092400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:193090400-193092400	Active TSS	Aorta	Aorta
48	chr1:193090400-193092400	Active TSS	Brain Cingulate Gyrus	brain
49	chr1:193090400-193092400	Active TSS	Colonic Mucosa	Colon
50	chr1:193090400-193092400	Active TSS	Esophagus	oesophagus

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