Variant report

Variant	rs1864923
Chromosome Location	chr5:127420843-127420844
allele	C/G
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	RCOR1	chr5:127418195-127420881	K562	blood:	n/a	n/a
2	POLR2A	chr5:127418288-127420880	GM15510	blood:	n/a	n/a
3	MAX	chr5:127420026-127420898	GM12878	blood:	n/a	n/a
4	ZNF384	chr5:127420811-127421003	K562	blood:	n/a	n/a
5	POLR2A	chr5:127420426-127420934	GM12891	blood:	n/a	n/a
6	MAX	chr5:127419957-127420902	K562	blood:	n/a	n/a
7	EGR1	chr5:127420475-127420845	K562	blood:	n/a	chr5:127420677-127420686 chr5:127420677-127420687 chr5:127420677-127420687 chr5:127420675-127420689 chr5:127420677-127420688 chr5:127420676-127420689 chr5:127420673-127420687 chr5:127420676-127420689
8	MTA3	chr5:127420171-127421018	GM12878	blood:	n/a	n/a
9	CHD1	chr5:127420524-127420907	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr5:127420593-127420928	K562	blood:	n/a	n/a
11	UBTF	chr5:127418289-127420869	K562	blood:	n/a	n/a
12	RUNX3	chr5:127420208-127420893	GM12878	blood:	n/a	n/a
13	MAX	chr5:127419969-127420938	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:127418239-127421057	SK-N-SH	brain:	n/a	chr5:127419516-127419529 chr5:127420435-127420444
15	POLR2A	chr5:127420236-127420846	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:127417660-127420852	GM18951	blood:	n/a	n/a
17	NFIC	chr5:127420390-127420859	GM12878	blood:	n/a	n/a
18	ZNF143	chr5:127420441-127420959	K562	blood:	n/a	n/a
19	MXI1	chr5:127417997-127421109	IMR90	lung:	n/a	chr5:127418982-127418997
20	REST	chr5:127418122-127421075	H1-neurons	neurons:	n/a	chr5:127419199-127419212
21	TCF12	chr5:127420820-127421566	A549	lung:	n/a	chr5:127421153-127421162
22	MXI1	chr5:127416807-127421055	SK-N-SH	brain:	n/a	chr5:127418982-127418997
23	MAZ	chr5:127420245-127420882	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:127420320-127421108	MCF10A-Er-Src	breast:	n/a	n/a
25	RCOR1	chr5:127420637-127420845	GM12878	blood:	n/a	n/a
26	E2F4	chr5:127420834-127421001	MCF10A-Er-Src	breast:	n/a	n/a
27	EGR1	chr5:127420418-127420902	MCF-7	breast:	n/a	chr5:127420677-127420686 chr5:127420677-127420687 chr5:127420677-127420687 chr5:127420675-127420689 chr5:127420677-127420688 chr5:127420676-127420689 chr5:127420673-127420687 chr5:127420676-127420689
28	TBP	chr5:127420596-127420879	GM12878	blood:	n/a	n/a
29	PML	chr5:127420213-127420994	GM12878	blood:	n/a	n/a
30	CCNT2	chr5:127418494-127420917	K562	blood:	n/a	chr5:127420429-127420438
31	POLR2A	chr5:127416754-127420919	GM18505	blood:	n/a	n/a
32	EGR1	chr5:127420511-127420860	K562	blood:	n/a	chr5:127420677-127420686 chr5:127420677-127420687 chr5:127420677-127420687 chr5:127420675-127420689 chr5:127420677-127420688 chr5:127420676-127420689 chr5:127420673-127420687 chr5:127420676-127420689
33	POLR2A	chr5:127420622-127420846	GM12878	blood:	n/a	n/a
34	BHLHE40	chr5:127420455-127421015	GM12878	blood:	n/a	n/a
35	POLR2A	chr5:127419945-127420929	GM12878	blood:	n/a	n/a
36	ZNF263	chr5:127418043-127421398	HEK293-T-REx	kidney:	n/a	chr5:127419101-127419122
37	MXI1	chr5:127418078-127420942	GM12878	blood:	n/a	chr5:127418982-127418997
38	MYC	chr5:127420185-127420941	K562	blood:	n/a	n/a
39	MAFF	chr5:127420619-127421025	K562	blood:	n/a	n/a
40	MAX	chr5:127420559-127420851	K562	blood:	n/a	n/a
41	EP300	chr5:127420039-127420872	GM12878	blood:	n/a	n/a
42	POLR2A	chr5:127417720-127420865	GM19193	blood:	n/a	n/a
43	CUX1	chr5:127420644-127420844	GM12878	blood:	n/a	n/a
44	SIN3AK20	chr5:127419910-127421002	MCF-7	breast:	n/a	n/a
45	SIN3A	chr5:127418427-127420880	H1-hESC	embryonic stem cell:	n/a	chr5:127419061-127419072 chr5:127418914-127418927 chr5:127419336-127419347
46	CHD2	chr5:127420147-127420891	GM12878	blood:	n/a	n/a
47	POLR2A	chr5:127417826-127420862	GM18526	blood:	n/a	n/a
48	POLR2A	chr5:127419989-127420874	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr5:127415707-127420942	GM12878	blood:	n/a	n/a
50	MYC	chr5:127420674-127421303	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:127420842-127420892	HEEpiC	esophagus:	n/a
2	chr5:127420842-127420892	IMR90	lung:	fetal
3	chr5:127420842-127420892	K562	blood:	n/a
4	chr5:127420842-127420892	GM06990	blood:	n/a
5	chr5:127420842-127420892	HPAEpiC	pulmonary alveolar:	n/a
6	chr5:127420842-127420892	PrEC	prostate:	n/a
7	chr5:127420842-127420892	A549	lung:	n/a
8	chr5:127420842-127420892	NB4	blood:	n/a
9	chr5:127420842-127420892	Caco-2	colon:	n/a
10	chr5:127420842-127420892	HIPEpiC	eye:	n/a
11	chr5:127420842-127420892	SK-N-SH_RA	brain:	n/a
12	chr5:127420842-127420892	Hepatocyte	liver:	n/a
13	chr5:127420842-127420892	LNCaP	prostate:	n/a
14	chr5:127420842-127420892	Hela-S3	cervix:	n/a
15	chr5:127420842-127420892	AG09319	gingival:	n/a
16	chr5:127420842-127420892	ProgFib	skin:	n/a
17	chr5:127420842-127420892	HNPCEpiC	eye:	n/a
18	chr5:127420842-127420892	AG04449	skin:	fetal
19	chr5:127420842-127420892	SAEC	small airway:	n/a
20	chr5:127420842-127420892	SK-N-MC	brain:	n/a
21	chr5:127420842-127420892	HEK293	kidney:	embryo
22	chr5:127420842-127420892	GM12892	blood:	n/a
23	chr5:127420842-127420892	ECC-1	luminal epithelium:	n/a
24	chr5:127420842-127420892	AG04450	lung:	fetal
25	chr5:127420842-127420892	MCF-7	breast:	n/a
26	chr5:127420842-127420892	PANC-1	pancreas:	n/a
27	chr5:127420842-127420892	HepG2	liver:	n/a
28	chr5:127420842-127420892	HL-60	blood:	n/a
29	chr5:127420842-127420892	CMK	blood:	n/a
30	chr5:127420842-127420892	AG10803	skin:	n/a
31	chr5:127420842-127420892	GM12891	blood:	n/a
32	chr5:127420842-127420892	SK-N-SH	brain:	n/a
33	chr5:127420842-127420892	AoSMC	blood vessel:	n/a
34	chr5:127420842-127420892	MCF10A-Er-Src	breast:	n/a
35	chr5:127420842-127420892	NH-A	brain:	n/a
36	chr5:127420842-127420892	NHBE	bronchial:	n/a
37	chr5:127420842-127420892	BJ	skin:	n/a
38	chr5:127420842-127420892	HAEpiC	amniotic membrane:	n/a
39	chr5:127420842-127420892	HMEC	breast:	n/a
40	chr5:127420842-127420892	ovcar-3	ovarian:	n/a
41	chr5:127420842-127420892	HCT-116	colon:	n/a
42	chr5:127420842-127420892	PFSK-1	brain:	n/a
43	chr5:127420842-127420892	NT2-D1	testis:	n/a
44	chr5:127420842-127420892	HRE	kidney:	n/a
45	chr5:127420842-127420892	AG09309	skin:	n/a
46	chr5:127420842-127420892	RPTEC	kidney:	n/a
47	chr5:127420842-127420892	HCF	heart:	n/a
48	chr5:127420842-127420892	SKMC	muscle:	n/a
49	chr5:127420842-127420892	T-47D	breast:	n/a
50	chr5:127420842-127420892	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:127419152..127422053-chr5:130501089..130503265,2	K562	blood:
2	chr5:127417788..127421083-chr5:127443681..127446699,3	K562	blood:
3	chr5:127419680..127422098-chr5:127455082..127457823,2	MCF-7	breast:
4	chr5:126885413..126887008-chr5:127420669..127422441,2	MCF-7	breast:
5	chr5:127267226..127272789-chr5:127416073..127421756,7	MCF-7	breast:
6	chr5:127267836..127272333-chr5:127416528..127421531,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245937	TF binding region
ENSG00000245937	CpG island
ENSG00000250329	Chromatin interaction
ENSG00000169567	Chromatin interaction
ENSG00000230561	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10045113	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10045307	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10057122	0.81[AMR][1000 genomes]
rs10059867	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10060181	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10060390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10061367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10064098	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10064357	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10089	1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs1012851	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10223203	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1036171	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10463838	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10463839	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10478796	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10478798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10478803	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10519973	0.84[CHB][hapmap]
rs10519974	0.84[CHB][hapmap]
rs11957052	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13355233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13356473	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13357268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13358455	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1368270	0.89[CHB][hapmap]
rs1432614	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1432615	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1559263	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1560636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17164310	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17164427	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17764954	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1842006	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1864922	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1985268	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2016015	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2054444	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2190797	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2228112	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2409109	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2898096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3087889	1.00[CEU][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35212223	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3792866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805604	0.84[CHB][hapmap]
rs3805606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805607	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805612	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3805615	1.00[CEU][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3816006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835940	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835942	0.84[CHB][hapmap]
rs4835943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4835944	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4835945	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4836358	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4836359	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4836360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4836362	0.84[CHB][hapmap]
rs4836363	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4836365	0.84[CHB][hapmap]
rs4836366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4836367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4836368	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836369	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836370	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56066100	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58433932	0.91[AMR][1000 genomes]
rs60964984	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62373701	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6595798	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6595800	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6595806	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595807	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6862701	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6873339	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6875982	0.83[EUR][1000 genomes]
rs6879970	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6887674	0.83[EUR][1000 genomes]
rs6887847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72794392	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72794396	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72794400	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72794401	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs736969	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs758179	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7703634	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7713860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7718286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7732599	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs790156	0.95[YRI][hapmap]
rs806100	0.91[YRI][hapmap]
rs883074	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs891886	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9968597	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3527607	chr5:127406703-127421401	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3527608	chr5:127406703-127421401	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1812864	chr5:127408921-127427533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127416600-127421600	Active TSS	HSMMtube	muscle
2	chr5:127416800-127424200	Active TSS	GM12878-XiMat	blood
3	chr5:127417000-127422400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr5:127417000-127424200	Active TSS	Stomach Smooth Muscle	stomach
5	chr5:127417200-127421600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:127417400-127421000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:127417400-127421000	Active TSS	HSMM	muscle
8	chr5:127417400-127421000	Active TSS	NHEK	skin
9	chr5:127417400-127421200	Active TSS	Rectal Smooth Muscle	rectum
10	chr5:127417400-127421200	Active TSS	NHLF	lung
11	chr5:127417400-127421400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:127417400-127421400	Active TSS	Stomach Mucosa	stomach
13	chr5:127417400-127421400	Active TSS	NHDF-Ad	bronchial
14	chr5:127417400-127422400	Active TSS	Brain Angular Gyrus	brain
15	chr5:127417400-127422800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr5:127417400-127422800	Active TSS	Brain Substantia Nigra	brain
17	chr5:127417400-127423200	Active TSS	Brain Anterior Caudate	brain
18	chr5:127417400-127423400	Active TSS	Ovary	ovary
19	chr5:127417400-127423800	Active TSS	Fetal Intestine Large	intestine
20	chr5:127417400-127424400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr5:127417600-127421800	Active TSS	Brain Cingulate Gyrus	brain
22	chr5:127417600-127422200	Active TSS	Psoas Muscle	Psoas
23	chr5:127417600-127422400	Active TSS	A549	lung
24	chr5:127417600-127422800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:127417600-127423000	Active TSS	Brain Hippocampus Middle	brain
26	chr5:127417800-127421000	Active TSS	Left Ventricle	heart
27	chr5:127417800-127421000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr5:127418000-127421200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:127418000-127421400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:127418600-127421000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:127418600-127421400	Active TSS	Fetal Thymus	thymus
32	chr5:127418600-127421400	Active TSS	HepG2	liver
33	chr5:127419200-127423000	Active TSS	Right Atrium	heart
34	chr5:127419400-127421600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr5:127419800-127421000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr5:127420000-127421000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:127420000-127421000	Flanking Active TSS	Pancreas	Pancrea
38	chr5:127420000-127421200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr5:127420000-127421600	Active TSS	Fetal Brain Male	brain
40	chr5:127420000-127421800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:127420200-127421000	Flanking Active TSS	Liver	Liver
42	chr5:127420200-127421000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr5:127420200-127421000	Flanking Active TSS	HMEC	breast
44	chr5:127420200-127421000	Flanking Active TSS	Osteobl	bone
45	chr5:127420200-127421200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:127420200-127421200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr5:127420200-127421200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr5:127420200-127421200	Flanking Active TSS	Hela-S3	cervix
49	chr5:127420200-127421400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr5:127420200-127421400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links