Variant report

Variant	rs4695309
Chromosome Location	chr4:47917122-47917123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr4:47916290-47917145	HepG2	liver:	n/a	n/a
2	SIN3AK20	chr4:47915690-47917128	MCF-7	breast:	n/a	n/a
3	RCOR1	chr4:47916257-47917168	GM12878	blood:	n/a	n/a
4	ZBTB7A	chr4:47915823-47917124	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr4:47915367-47917156	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr4:47916122-47917168	HUVEC	blood vessel:	n/a	n/a
7	TCF12	chr4:47916159-47917226	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr4:47916341-47917178	MCF-7	breast:	n/a	n/a
9	MXI1	chr4:47915452-47917184	HepG2	liver:	n/a	n/a
10	NRF1	chr4:47916598-47917247	HepG2	liver:	n/a	chr4:47916763-47916774
11	POLR2A	chr4:47915315-47917247	GM12891	blood:	n/a	n/a
12	MAX	chr4:47915344-47917165	K562	blood:	n/a	n/a
13	POLR2A	chr4:47916211-47917142	PFSK-1	brain:	n/a	n/a
14	MAX	chr4:47915655-47917169	HCT-116	colon:	n/a	n/a
15	CBX3	chr4:47916338-47917199	K562	blood:	n/a	n/a
16	POLR2A	chr4:47915777-47917124	GM12878	blood:	n/a	n/a
17	MAX	chr4:47915718-47917144	A549	lung:	n/a	n/a
18	BHLHE40	chr4:47916248-47917311	GM12878	blood:	n/a	n/a
19	MAX	chr4:47915714-47917303	HepG2	liver:	n/a	n/a
20	ELF1	chr4:47916113-47917171	HCT-116	colon:	n/a	n/a
21	ZNF143	chr4:47916106-47917126	K562	blood:	n/a	chr4:47916790-47916799 chr4:47916792-47916801 chr4:47916790-47916808
22	TBP	chr4:47915758-47917150	H1-hESC	embryonic stem cell:	n/a	n/a
23	HA-E2F1	chr4:47915663-47917138	MCF-7	breast:	n/a	chr4:47916758-47916767
24	ZMIZ1	chr4:47916329-47917136	K562	blood:	n/a	n/a
25	TBP	chr4:47915351-47917221	K562	blood:	n/a	n/a
26	MAZ	chr4:47916258-47917422	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:47915575-47917172	MCF10A-Er-Src	breast:	n/a	n/a
28	MAZ	chr4:47915811-47917764	IMR90	lung:	n/a	n/a
29	IRF1	chr4:47916241-47917254	K562	blood:	n/a	n/a
30	HCFC1	chr4:47915893-47917150	K562	blood:	n/a	n/a
31	E2F6	chr4:47916440-47917197	A549	lung:	n/a	chr4:47916758-47916767
32	NFIC	chr4:47916378-47917203	ECC-1	luminal epithelium:	n/a	chr4:47916949-47916977
33	KAP1	chr4:47915226-47917155	HEK293	kidney:	n/a	n/a
34	E2F6	chr4:47915550-47917214	K562	blood:	n/a	chr4:47916758-47916767
35	MAX	chr4:47915851-47917523	K562	blood:	n/a	n/a
36	E2F4	chr4:47915688-47917374	MCF10A-Er-Src	breast:	n/a	chr4:47916571-47916582 chr4:47916758-47916767
37	MYC	chr4:47916447-47917478	MCF10A-Er-Src	breast:	n/a	n/a
38	NR2C2	chr4:47916409-47917226	HepG2	liver:	n/a	chr4:47916823-47916836 chr4:47916821-47916836
39	HCFC1	chr4:47915341-47917371	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr4:47915808-47917122	HepG2	liver:	n/a	n/a
41	MXI1	chr4:47915166-47917322	IMR90	lung:	n/a	n/a
42	ATF1	chr4:47916459-47917184	K562	blood:	n/a	n/a
43	FOXM1	chr4:47916318-47917170	GM12878	blood:	n/a	n/a
44	MAX	chr4:47915742-47917170	ECC-1	luminal epithelium:	n/a	n/a
45	SREBP1	chr4:47915452-47917966	GM12878	blood:	n/a	n/a
46	MTA3	chr4:47915465-47917257	GM12878	blood:	n/a	n/a
47	MAX	chr4:47916493-47917131	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr4:47915758-47917186	GM12878	blood:	n/a	n/a
49	TBL1XR1	chr4:47916248-47917503	K562	blood:	n/a	n/a
50	GABPA	chr4:47915923-47917255	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:47917094-47917144	K562	blood:	n/a
2	chr4:47917094-47917144	CMK	blood:	n/a
3	chr4:47917094-47917144	HEEpiC	esophagus:	n/a
4	chr4:47917094-47917144	Hepatocyte	liver:	n/a
5	chr4:47917094-47917144	ECC-1	luminal epithelium:	n/a
6	chr4:47917094-47917144	HRCEpiC	kidney:	n/a
7	chr4:47917094-47917144	Hela-S3	cervix:	n/a
8	chr4:47917094-47917144	LNCaP	prostate:	n/a
9	chr4:47917094-47917144	SK-N-SH_RA	brain:	n/a
10	chr4:47917094-47917144	Jurkat	blood:	n/a
11	chr4:47917094-47917144	HPAEpiC	pulmonary alveolar:	n/a
12	chr4:47917094-47917144	GM12892	blood:	n/a
13	chr4:47917094-47917144	SKMC	muscle:	n/a
14	chr4:47917094-47917144	RPTEC	kidney:	n/a
15	chr4:47917094-47917144	PrEC	prostate:	n/a
16	chr4:47917094-47917144	SAEC	small airway:	n/a
17	chr4:47917094-47917144	MCF10A-Er-Src	breast:	n/a
18	chr4:47917094-47917144	GM12891	blood:	n/a
19	chr4:47917094-47917144	HMEC	breast:	n/a
20	chr4:47917094-47917144	HAEpiC	amniotic membrane:	n/a
21	chr4:47917094-47917144	Caco-2	colon:	n/a
22	chr4:47917094-47917144	HEK293	kidney:	embryo
23	chr4:47917094-47917144	HCF	heart:	n/a
24	chr4:47917094-47917144	A549	lung:	n/a
25	chr4:47917094-47917144	H1-hESC	embryonic stem cell:	embryo
26	chr4:47917094-47917144	GM06990	blood:	n/a
27	chr4:47917094-47917144	AG04450	lung:	fetal
28	chr4:47917094-47917144	U87	brain:	n/a
29	chr4:47917094-47917144	AG04449	skin:	fetal
30	chr4:47917094-47917144	AoSMC	blood vessel:	n/a
31	chr4:47917094-47917144	PFSK-1	brain:	n/a
32	chr4:47917094-47917144	BE2_C	brain:	n/a
33	chr4:47917094-47917144	NHDF-neo	bronchial:	n/a
34	chr4:47917094-47917144	NH-A	brain:	n/a
35	chr4:47917094-47917144	PANC-1	pancreas:	n/a
36	chr4:47917094-47917144	SK-N-SH	brain:	n/a
37	chr4:47917094-47917144	GM12878	blood:	n/a
38	chr4:47917094-47917144	NB4	blood:	n/a
39	chr4:47917094-47917144	AG10803	skin:	n/a
40	chr4:47917094-47917144	HCT-116	colon:	n/a
41	chr4:47917094-47917144	AG09309	skin:	n/a
42	chr4:47917094-47917144	IMR90	lung:	fetal
43	chr4:47917094-47917144	T-47D	breast:	n/a
44	chr4:47917094-47917144	MCF-7	breast:	n/a
45	chr4:47917094-47917144	SK-N-MC	brain:	n/a
46	chr4:47917094-47917144	ProgFib	skin:	n/a
47	chr4:47917094-47917144	HepG2	liver:	n/a
48	chr4:47917094-47917144	BJ	skin:	n/a
49	chr4:47917094-47917144	HNPCEpiC	eye:	n/a
50	chr4:47917094-47917144	HRPEpiC	eye:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47914296..47917191-chr4:48017364..48021197,5	MCF-7	breast:

No data

Variant related genes	Relation type
NFXL1	TF binding region
NFXL1	CpG island
ENSG00000163293	Chromatin interaction
ENSG00000198515	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10002498	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10020447	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025104	0.81[CEU][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs10030927	0.81[CEU][hapmap]
rs1036681	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10461075	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805158	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10938508	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11732840	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11946535	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506026	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647189	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143926	0.87[ASN][1000 genomes]
rs1348023	0.89[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.96[TSI][hapmap]
rs1371728	1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs1440220	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs1440222	1.00[ASN][1000 genomes]
rs1440227	0.81[CEU][hapmap]
rs1507922	0.90[GIH][hapmap];0.85[TSI][hapmap]
rs1545200	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550444	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167692	0.89[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs1808853	0.87[EUR][1000 genomes]
rs1812964	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188900	1.00[ASN][1000 genomes]
rs1968542	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972883	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972884	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014934	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033894	0.91[EUR][1000 genomes]
rs2033895	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053404	0.81[CEU][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs2119204	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119205	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2119207	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119208	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs224801	0.87[ASN][1000 genomes]
rs2289433	0.81[CEU][hapmap];0.97[GIH][hapmap]
rs2352456	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2352457	1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2352463	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2352466	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2581496	1.00[ASN][1000 genomes]
rs28464733	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882950	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113877	1.00[ASN][1000 genomes]
rs3113879	1.00[ASN][1000 genomes]
rs3113880	0.87[ASN][1000 genomes]
rs321625	1.00[ASN][1000 genomes]
rs321639	0.89[ASN][1000 genomes]
rs321640	1.00[ASN][1000 genomes]
rs321641	0.87[ASN][1000 genomes]
rs321647	0.87[ASN][1000 genomes]
rs321649	0.87[ASN][1000 genomes]
rs3762858	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762859	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811761	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845160	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308343	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365692	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4507330	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4529019	0.81[CEU][hapmap]
rs4694868	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694871	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.97[TSI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694872	0.81[CEU][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs4694875	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4694878	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695287	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695294	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4695296	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4695302	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695303	0.81[CEU][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs4695306	0.81[CEU][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs4695312	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695316	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6414687	0.81[CEU][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs6447586	0.81[CEU][hapmap]
rs6447593	0.85[CEU][hapmap]
rs6447596	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447599	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447602	0.83[EUR][1000 genomes]
rs6815975	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818556	0.81[CEU][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs6819506	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823572	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826190	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826909	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827508	0.88[CEU][hapmap]
rs6829073	0.92[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap]
rs6832334	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833320	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841271	0.89[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs6844286	0.81[CEU][hapmap]
rs6845451	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850142	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs707723	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668778	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670219	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671780	1.00[JPT][hapmap]
rs7672090	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690406	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690522	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690562	0.83[CEU][hapmap]
rs893861	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893863	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893864	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920463	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9291317	0.81[CEU][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap]
rs9291318	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9291319	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995022	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv594118	chr4:47560386-47917730	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4695309	CNGA1	cis	Thyroid	GTEx
rs4695309	CNGA1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47913400-47917200	Active TSS	Muscle Satellite Cultured Cells	--
2	chr4:47914200-47917400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:47914400-47917400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:47914400-47917600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr4:47914400-47917600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr4:47915000-47917200	Active TSS	HMEC	breast
7	chr4:47915000-47917400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr4:47915000-47917400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:47915000-47917400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr4:47915000-47917600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:47915200-47917200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:47915200-47917200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr4:47915200-47917200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:47915200-47917200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:47915200-47917200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:47915200-47917200	Active TSS	Aorta	Aorta
17	chr4:47915200-47917200	Active TSS	Pancreas	Pancrea
18	chr4:47915200-47917200	Active TSS	Psoas Muscle	Psoas
19	chr4:47915200-47917400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:47915200-47917400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:47915200-47917400	Active TSS	Brain Germinal Matrix	brain
22	chr4:47915200-47917600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:47915400-47917200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:47915400-47917200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:47915400-47917200	Active TSS	Colonic Mucosa	Colon
26	chr4:47915400-47917200	Active TSS	Fetal Kidney	kidney
27	chr4:47915400-47917200	Active TSS	Gastric	stomach
28	chr4:47915400-47917400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr4:47915400-47917400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:47915400-47917600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr4:47915600-47917200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:47915600-47917200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:47915600-47917200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:47915600-47917200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:47915600-47917200	Active TSS	Placenta	Placenta
36	chr4:47915600-47917200	Active TSS	Left Ventricle	heart
37	chr4:47915600-47917200	Active TSS	Ovary	ovary
38	chr4:47915600-47917200	Active TSS	Stomach Mucosa	stomach
39	chr4:47915600-47917200	Active TSS	NHDF-Ad	bronchial
40	chr4:47915600-47917400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:47915600-47917400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:47915600-47917400	Active TSS	Fetal Intestine Large	intestine
43	chr4:47915600-47917400	Active TSS	Fetal Intestine Small	intestine
44	chr4:47915600-47917400	Active TSS	A549	lung
45	chr4:47915600-47917400	Active TSS	NHEK	skin
46	chr4:47915600-47917600	Active TSS	Fetal Brain Female	brain
47	chr4:47915600-47917800	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr4:47915800-47917200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:47915800-47917200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:47915800-47917200	Active TSS	Brain Anterior Caudate	brain

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