Variant report

Variant	rs3756354
Chromosome Location	chr5:100239533-100239534
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	POLR2A	chr5:100235429-100240649	GM15510	blood:	n/a	n/a
2	POLR2A	chr5:100235280-100240729	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:100235332-100240774	GM12892	blood:	n/a	n/a
4	CREB1	chr5:100238710-100240519	GM12878	blood:	n/a	n/a
5	STAT5A	chr5:100238805-100239609	GM12878	blood:	n/a	chr5:100239484-100239492
6	POU2F2	chr5:100239474-100239639	GM12878	blood:	n/a	chr5:100239620-100239633
7	WRNIP1	chr5:100235346-100240713	GM12878	blood:	n/a	n/a
8	EGR1	chr5:100239314-100239596	GM12878	blood:	n/a	chr5:100239444-100239458 chr5:100239443-100239456 chr5:100239443-100239456 chr5:100239443-100239456 chr5:100239442-100239457 chr5:100239446-100239455 chr5:100239443-100239457 chr5:100239445-100239455 chr5:100239443-100239456
9	HA-E2F1	chr5:100238577-100239557	MCF-7	breast:	n/a	n/a
10	MTA3	chr5:100235381-100240793	GM12878	blood:	n/a	n/a
11	ZEB1	chr5:100238564-100239658	GM12878	blood:	n/a	n/a
12	EGR1	chr5:100239323-100239558	K562	blood:	n/a	chr5:100239444-100239458 chr5:100239443-100239456 chr5:100239443-100239456 chr5:100239443-100239456 chr5:100239442-100239457 chr5:100239446-100239455 chr5:100239443-100239457 chr5:100239445-100239455 chr5:100239443-100239456
13	EP300	chr5:100238838-100239735	GM12878	blood:	n/a	chr5:100239231-100239247
14	BHLHE40	chr5:100238806-100240722	GM12878	blood:	n/a	n/a
15	TBL1XR1	chr5:100235631-100239605	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:100235518-100240611	Raji	blood:	n/a	n/a
17	POLR2A	chr5:100233971-100241412	GM18505	blood:	n/a	n/a
18	REST	chr5:100235669-100239645	H1-neurons	neurons:	n/a	chr5:100236965-100236978 chr5:100237195-100237215 chr5:100236950-100236963 chr5:100236164-100236171
19	POLR2A	chr5:100232586-100241372	GM12891	blood:	n/a	n/a
20	RFX5	chr5:100238816-100240446	GM12878	blood:	n/a	chr5:100239027-100239036
21	POLR2A	chr5:100238674-100240337	GM10847	blood:	n/a	n/a
22	FOXM1	chr5:100238731-100240627	GM12878	blood:	n/a	chr5:100239487-100239495 chr5:100240588-100240596
23	POLR2A	chr5:100235044-100240661	GM12892	blood:	n/a	n/a
24	NFIC	chr5:100238701-100239626	GM12878	blood:	n/a	n/a
25	CHD2	chr5:100237641-100239695	GM12878	blood:	n/a	n/a
26	SIN3A	chr5:100237053-100240427	GM12878	blood:	n/a	n/a
27	RELA	chr5:100237275-100240608	GM18505	blood:	n/a	n/a
28	CHD1	chr5:100234019-100241405	GM12878	blood:	n/a	n/a
29	RUNX3	chr5:100238723-100240689	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:100235363-100241328	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:100235760-100240525	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:100235479-100241390	GM18526	blood:	n/a	n/a
33	PML	chr5:100235583-100240737	GM12878	blood:	n/a	chr5:100240171-100240179
34	ZNF263	chr5:100235865-100240291	HEK293-T-REx	kidney:	n/a	n/a
35	POU2F2	chr5:100238619-100239782	GM12878	blood:	n/a	chr5:100239620-100239633
36	EBF1	chr5:100237565-100240618	GM12878	blood:	n/a	chr5:100239208-100239219
37	NFATC1	chr5:100238872-100239699	GM12878	blood:	n/a	n/a
38	RELA	chr5:100235704-100241391	GM12878	blood:	n/a	n/a
39	TAF1	chr5:100238714-100239636	GM12891	blood:	n/a	n/a
40	POLR2A	chr5:100238866-100239640	MCF10A-Er-Src	breast:	n/a	n/a
41	EGR1	chr5:100239234-100239569	K562	blood:	n/a	chr5:100239444-100239458 chr5:100239443-100239456 chr5:100239443-100239456 chr5:100239443-100239456 chr5:100239442-100239457 chr5:100239446-100239455 chr5:100239443-100239457 chr5:100239445-100239455 chr5:100239443-100239456
42	TBP	chr5:100237362-100240593	GM12878	blood:	n/a	n/a
43	MTA3	chr5:100235718-100240515	GM12878	blood:	n/a	n/a
44	MXI1	chr5:100234124-100240505	GM12878	blood:	n/a	chr5:100236093-100236102
45	POLR2A	chr5:100235638-100240534	NB4	blood:	n/a	n/a
46	TAF1	chr5:100238631-100239693	GM12878	blood:	n/a	n/a
47	SMC3	chr5:100238756-100240568	GM12878	blood:	n/a	n/a
48	ELF1	chr5:100238770-100239726	GM12878	blood:	n/a	n/a
49	PML	chr5:100238746-100239562	GM12878	blood:	n/a	n/a
50	RCOR1	chr5:100238672-100240509	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:100239529-100239579	SK-N-SH	brain:	n/a
2	chr5:100239529-100239579	GM12891	blood:	n/a
3	chr5:100239529-100239579	ProgFib	skin:	n/a
4	chr5:100239529-100239579	SAEC	small airway:	n/a
5	chr5:100239529-100239579	Hela-S3	cervix:	n/a
6	chr5:100239529-100239579	HRCEpiC	kidney:	n/a
7	chr5:100239529-100239579	A549	lung:	n/a
8	chr5:100239529-100239579	AoSMC	blood vessel:	n/a
9	chr5:100239529-100239579	PFSK-1	brain:	n/a
10	chr5:100239529-100239579	HMEC	breast:	n/a
11	chr5:100239529-100239579	IMR90	lung:	fetal
12	chr5:100239529-100239579	SK-N-MC	brain:	n/a
13	chr5:100239529-100239579	T-47D	breast:	n/a
14	chr5:100239529-100239579	AG09319	gingival:	n/a
15	chr5:100239529-100239579	ovcar-3	ovarian:	n/a
16	chr5:100239529-100239579	HCM	heart:	n/a
17	chr5:100239529-100239579	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:100239529-100239579	AG04449	skin:	fetal
19	chr5:100239529-100239579	NHDF-neo	bronchial:	n/a
20	chr5:100239529-100239579	K562	blood:	n/a
21	chr5:100239529-100239579	MCF-7	breast:	n/a
22	chr5:100239529-100239579	HL-60	blood:	n/a
23	chr5:100239529-100239579	NHBE	bronchial:	n/a
24	chr5:100239529-100239579	Hepatocyte	liver:	n/a
25	chr5:100239529-100239579	NH-A	brain:	n/a
26	chr5:100239529-100239579	HepG2	liver:	n/a
27	chr5:100239529-100239579	HCF	heart:	n/a
28	chr5:100239529-100239579	GM19239	blood:	n/a
29	chr5:100239529-100239579	BJ	skin:	n/a
30	chr5:100239529-100239579	GM06990	blood:	n/a
31	chr5:100239529-100239579	NB4	blood:	n/a
32	chr5:100239529-100239579	SK-N-SH_RA	brain:	n/a
33	chr5:100239529-100239579	Jurkat	blood:	n/a
34	chr5:100239529-100239579	U87	brain:	n/a
35	chr5:100239529-100239579	AG10803	skin:	n/a
36	chr5:100239529-100239579	PANC-1	pancreas:	n/a
37	chr5:100239529-100239579	Caco-2	colon:	n/a
38	chr5:100239529-100239579	H1-hESC	embryonic stem cell:	embryo
39	chr5:100239529-100239579	RPTEC	kidney:	n/a
40	chr5:100239529-100239579	SKMC	muscle:	n/a
41	chr5:100239529-100239579	HNPCEpiC	eye:	n/a
42	chr5:100239529-100239579	GM12892	blood:	n/a
43	chr5:100239529-100239579	MCF10A-Er-Src	breast:	n/a
44	chr5:100239529-100239579	AG09309	skin:	n/a
45	chr5:100239529-100239579	ECC-1	luminal epithelium:	n/a
46	chr5:100239529-100239579	CMK	blood:	n/a
47	chr5:100239529-100239579	HRPEpiC	eye:	n/a
48	chr5:100239529-100239579	NT2-D1	testis:	n/a
49	chr5:100239529-100239579	AG04450	lung:	fetal
50	chr5:100239529-100239579	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100235471..100237177-chr5:100239022..100241293,2	MCF-7	breast:

Variant related genes	Relation type
ST8SIA4	TF binding region
ST8SIA4	CpG island

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10043056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10044903	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10052474	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10057237	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10058901	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10059470	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10059846	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10069305	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075853	0.88[CEU][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10078251	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10078934	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10214216	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10463771	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10463772	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10477661	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10478598	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10478599	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10478633	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10478649	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10515303	0.91[EUR][1000 genomes]
rs11241752	1.00[CEU][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11241755	1.00[CEU][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11241794	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11584	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs11738152	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11741369	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11742480	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11742504	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11748306	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12153670	0.96[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12332145	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12332642	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12719316	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13355889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13357545	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13358325	0.96[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13436424	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13857	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1423380	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1423384	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1423385	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1428439	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1541676	1.00[CEU][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1559058	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1559059	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17723545	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17724185	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17725452	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17725678	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17726346	0.90[EUR][1000 genomes]
rs17780091	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17780273	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17780471	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17780525	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17782041	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17782250	0.88[ASW][hapmap];0.85[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1820150	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1833862	0.96[CEU][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2059845	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2059846	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2400313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2544913	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2548256	0.85[ASN][1000 genomes]
rs2548257	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2548263	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2548276	1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548278	1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2548279	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2548280	0.85[ASN][1000 genomes]
rs2725116	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2725124	0.93[CHB][hapmap];0.88[CHD][hapmap];0.85[ASN][1000 genomes]
rs28413976	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34564041	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3756350	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3756351	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3756352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3756353	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3756355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3776155	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3776167	0.92[CEU][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3776168	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3776170	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3776171	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3776174	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3776176	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3822366	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3843478	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3846627	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3857365	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3909452	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3909453	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4702991	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4703126	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4703127	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4703128	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4703130	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4703131	1.00[CEU][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55805984	0.90[EUR][1000 genomes]
rs55849330	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55861847	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55959219	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55968003	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56752243	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59030588	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59490571	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60663279	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60853907	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs726971	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72776700	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72778607	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72778613	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72778620	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72778635	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72778649	0.90[EUR][1000 genomes]
rs72778650	0.89[EUR][1000 genomes]
rs7447673	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7703643	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7737721	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9327319	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9327323	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9327327	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs966257	0.96[CEU][hapmap];0.99[AMR][1000 genomes];0.97[EUR][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	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882471	chr5:100234439-100362071	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv882472	chr5:100234439-100512338	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv6955	chr5:100239361-100239554	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3756354	ST8SIA4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100232600-100245600	Active TSS	GM12878-XiMat	blood
2	chr5:100235400-100241400	Active TSS	Duodenum Mucosa	Duodenum
3	chr5:100235600-100240400	Active TSS	Brain Angular Gyrus	brain
4	chr5:100235600-100240600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:100235600-100240600	Active TSS	Thymus	Thymus
6	chr5:100235800-100239600	Active TSS	HSMMtube	muscle
7	chr5:100235800-100239800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:100235800-100240400	Active TSS	Brain Anterior Caudate	brain
9	chr5:100235800-100240400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:100235800-100240400	Active TSS	Lung	lung
11	chr5:100235800-100240600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
12	chr5:100235800-100240600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:100235800-100241000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:100235800-100241400	Active TSS	Right Atrium	heart
15	chr5:100236000-100239600	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr5:100236000-100239600	Active TSS	A549	lung
17	chr5:100236000-100239800	Active TSS	NHDF-Ad	bronchial
18	chr5:100236000-100240400	Active TSS	Colonic Mucosa	Colon
19	chr5:100236000-100240400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr5:100236000-100240400	Active TSS	Small Intestine	intestine
21	chr5:100236000-100240600	Active TSS	Right Ventricle	heart
22	chr5:100236000-100240600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr5:100236000-100240800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:100236200-100239600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:100236200-100239600	Active TSS	Fetal Lung	lung
26	chr5:100236200-100240800	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr5:100236200-100241200	Active TSS	Liver	Liver
28	chr5:100236200-100241400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr5:100236600-100240800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:100237000-100239600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr5:100237000-100240400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr5:100237200-100239600	Active TSS	Primary B cells from peripheral blood	blood
33	chr5:100237200-100239600	Active TSS	Placenta	Placenta
34	chr5:100237200-100239800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr5:100237200-100239800	Active TSS	Placenta Amnion	Placenta Amnion
36	chr5:100237200-100240000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:100237200-100240200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:100237200-100240400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:100237200-100240400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
40	chr5:100237200-100241000	Active TSS	Left Ventricle	heart
41	chr5:100237200-100241400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:100237400-100239600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:100237400-100239600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:100237400-100239800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:100237400-100240200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:100237400-100240400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr5:100237400-100240400	Bivalent/Poised TSS	Fetal Kidney	kidney
48	chr5:100237400-100240800	Active TSS	Psoas Muscle	Psoas
49	chr5:100237600-100239600	Active TSS	HSMM	muscle
50	chr5:100237600-100240600	Active TSS	Primary T helper cells PMA-I stimulated	--

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