Variant report

Variant	rs3763547
Chromosome Location	chr8:52812343-52812344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:52810595-52813244	GM19099	blood:	n/a	n/a
2	POLR2A	chr8:52810862-52812536	HL-60	blood:	n/a	n/a
3	POLR2A	chr8:52810421-52812431	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr8:52811322-52812717	HUVEC	blood vessel:	n/a	n/a
5	MAZ	chr8:52810721-52812795	IMR90	lung:	n/a	chr8:52811172-52811182
6	HCFC1	chr8:52810364-52812568	Hela-S3	cervix:	n/a	n/a
7	MYC	chr8:52810181-52812787	Hela-S3	cervix:	n/a	chr8:52811172-52811182
8	POU2F2	chr8:52811611-52812458	GM12891	blood:	n/a	n/a
9	POLR2A	chr8:52812150-52812372	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr8:52810298-52812957	GM18951	blood:	n/a	n/a
11	POLR2A	chr8:52811427-52812454	ECC-1	luminal epithelium:	n/a	n/a
12	ZBTB33	chr8:52811380-52812432	SK-N-SH	brain:	n/a	chr8:52811830-52811845
13	POLR2A	chr8:52812266-52812721	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr8:52810460-52813304	GM18505	blood:	n/a	n/a
15	MAX	chr8:52811228-52812661	K562	blood:	n/a	n/a
16	POLR2A	chr8:52810151-52812914	Hela-S3	cervix:	n/a	n/a
17	JUND	chr8:52811437-52812349	A549	lung:	n/a	chr8:52811750-52811759 chr8:52811543-52811554
18	RUNX3	chr8:52811289-52812398	GM12878	blood:	n/a	n/a
19	SIN3AK20	chr8:52810730-52812502	MCF-7	breast:	n/a	n/a
20	SMC3	chr8:52811457-52812387	Hela-S3	cervix:	n/a	chr8:52812170-52812180
21	POLR2A	chr8:52810762-52812495	GM12878	blood:	n/a	n/a
22	SIN3AK20	chr8:52811294-52812358	H1-hESC	embryonic stem cell:	n/a	n/a
23	PML	chr8:52810212-52813305	GM12878	blood:	n/a	n/a
24	MAX	chr8:52811199-52812499	MCF-7	breast:	n/a	n/a
25	PML	chr8:52811408-52812368	MCF-7	breast:	n/a	n/a
26	POLR2A	chr8:52811403-52812963	HUVEC	blood vessel:	n/a	n/a
27	CHD2	chr8:52810215-52812751	Hela-S3	cervix:	n/a	n/a
28	ZNF384	chr8:52811810-52813148	K562	blood:	n/a	n/a
29	POLR2A	chr8:52810556-52812801	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:52810757-52812785	K562	blood:	n/a	n/a
31	MAZ	chr8:52810404-52812377	K562	blood:	n/a	chr8:52811172-52811182
32	HEY1	chr8:52811367-52812372	HepG2	liver:	n/a	chr8:52811495-52811510 chr8:52811504-52811519
33	MTA3	chr8:52810360-52813108	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:52810849-52812710	MCF-7	breast:	n/a	n/a
35	HEY1	chr8:52811398-52812394	HepG2	liver:	n/a	chr8:52811495-52811510 chr8:52811504-52811519
36	TAF1	chr8:52811200-52812353	K562	blood:	n/a	n/a
37	MYC	chr8:52811350-52812493	MCF-7	breast:	n/a	n/a
38	POLR2A	chr8:52810778-52812411	K562	blood:	n/a	n/a
39	ZBTB7A	chr8:52811225-52812447	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr8:52810812-52812444	H1-neurons	neurons:	n/a	n/a
41	ZKSCAN1	chr8:52811749-52812537	Hela-S3	cervix:	n/a	n/a
42	MAX	chr8:52811360-52812443	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr8:52811337-52812345	HepG2	liver:	n/a	n/a
44	UBTF	chr8:52810275-52812377	K562	blood:	n/a	n/a
45	POLR2A	chr8:52809769-52815334	GM12891	blood:	n/a	n/a
46	HA-E2F1	chr8:52811434-52812798	MCF-7	breast:	n/a	chr8:52811749-52811758
47	ZNF263	chr8:52811526-52812797	HEK293-T-REx	kidney:	n/a	chr8:52811859-52811868 chr8:52812372-52812381
48	TAF1	chr8:52811425-52812351	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr8:52810768-52812419	GM12878	blood:	n/a	n/a
50	FOXA2	chr8:52811044-52812398	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:52812311-52812361	H1-hESC	embryonic stem cell:	embryo
2	chr8:52812311-52812361	HCF	heart:	n/a
3	chr8:52812311-52812361	AG04449	skin:	fetal
4	chr8:52812311-52812361	HRCEpiC	kidney:	n/a
5	chr8:52812311-52812361	SK-N-SH	brain:	n/a
6	chr8:52812311-52812361	HAEpiC	amniotic membrane:	n/a
7	chr8:52812311-52812361	A549	lung:	n/a
8	chr8:52812311-52812361	U87	brain:	n/a
9	chr8:52812311-52812361	HEK293	kidney:	embryo
10	chr8:52812311-52812361	CMK	blood:	n/a
11	chr8:52812311-52812361	HCPEpiC	choroid plexus:	n/a
12	chr8:52812311-52812361	SK-N-MC	brain:	n/a
13	chr8:52812311-52812361	GM12878	blood:	n/a
14	chr8:52812311-52812361	AG09319	gingival:	n/a
15	chr8:52812311-52812361	AG04450	lung:	fetal
16	chr8:52812311-52812361	GM06990	blood:	n/a
17	chr8:52812311-52812361	SAEC	small airway:	n/a
18	chr8:52812311-52812361	RPTEC	kidney:	n/a
19	chr8:52812311-52812361	SKMC	muscle:	n/a
20	chr8:52812311-52812361	Hela-S3	cervix:	n/a
21	chr8:52812311-52812361	BE2_C	brain:	n/a
22	chr8:52812311-52812361	NH-A	brain:	n/a
23	chr8:52812311-52812361	MCF10A-Er-Src	breast:	n/a
24	chr8:52812311-52812361	ECC-1	luminal epithelium:	n/a
25	chr8:52812311-52812361	SK-N-SH_RA	brain:	n/a
26	chr8:52812311-52812361	ProgFib	skin:	n/a
27	chr8:52812311-52812361	NT2-D1	testis:	n/a
28	chr8:52812311-52812361	HCM	heart:	n/a
29	chr8:52812311-52812361	AG09309	skin:	n/a
30	chr8:52812311-52812361	HL-60	blood:	n/a
31	chr8:52812311-52812361	IMR90	lung:	fetal
32	chr8:52812311-52812361	ovcar-3	ovarian:	n/a
33	chr8:52812311-52812361	NHDF-neo	bronchial:	n/a
34	chr8:52812311-52812361	HRE	kidney:	n/a
35	chr8:52812311-52812361	HUVEC	blood vessel:	n/a
36	chr8:52812311-52812361	GM12891	blood:	n/a
37	chr8:52812311-52812361	HPAEpiC	pulmonary alveolar:	n/a
38	chr8:52812311-52812361	HMEC	breast:	n/a
39	chr8:52812311-52812361	PrEC	prostate:	n/a
40	chr8:52812311-52812361	Caco-2	colon:	n/a
41	chr8:52812311-52812361	LNCaP	prostate:	n/a
42	chr8:52812311-52812361	HNPCEpiC	eye:	n/a
43	chr8:52812311-52812361	HEEpiC	esophagus:	n/a
44	chr8:52812311-52812361	AoSMC	blood vessel:	n/a
45	chr8:52812311-52812361	BJ	skin:	n/a
46	chr8:52812311-52812361	Jurkat	blood:	n/a
47	chr8:52812311-52812361	GM19239	blood:	n/a
48	chr8:52812311-52812361	NHBE	bronchial:	n/a
49	chr8:52812311-52812361	PFSK-1	brain:	n/a
50	chr8:52812311-52812361	Hepatocyte	liver:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:52811334..52814143-chr8:52920449..52922864,2	MCF-7	breast:
2	chr8:52811463..52813634-chr8:52919548..52922718,3	MCF-7	breast:
3	chr8:52811900..52812447-chr8:52920564..52921322,2	MCF-7	breast:
4	chr8:52810955..52812797-chr8:53371753..53374505,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC090186.1-1	chr8:52812294-52812406	ENSG00000228801.4
2	lnc-AC090186.1-1	chr8:52811885-52812406	ENSG00000228801.4
3	lnc-AC090186.1-1	chr8:52812209-52812406	ENSG00000228801.4
4	lnc-AC090186.1-1	chr8:52812275-52812767	ENSG00000228801.4
5	lnc-AC090186.1-1	chr8:52811824-52812406	NONHSAT126539
6	lnc-AC090186.1-1	chr8:52812209-52812406	ENSG00000228801.4

No data

Variant related genes	Relation type
PCMTD1	TF binding region
ENSG00000253475	TF binding region
PCMTD1	CpG island
ENSG00000253475	CpG island
ENSG00000254136	Chromatin interaction
ENSG00000147488	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs10086351	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086504	0.81[JPT][hapmap]
rs10095651	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10095739	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10096585	0.97[ASN][1000 genomes]
rs10096943	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10097328	0.81[JPT][hapmap]
rs10110304	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs10112086	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1022315	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1022316	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1022317	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10435632	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10464943	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10504128	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10504132	0.81[GIH][hapmap];0.81[JPT][hapmap]
rs1059041	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs1073371	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1073372	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1078888	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10958298	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10958299	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10958302	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10958303	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11775601	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11777316	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11777386	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11777885	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11782696	0.82[AFR][1000 genomes]
rs11782730	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11784921	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786126	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12334986	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12546934	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12675156	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12675404	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12676361	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12677168	1.00[YRI][hapmap]
rs12678479	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12680771	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12680958	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12681673	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12681867	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12682564	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13250041	0.81[AFR][1000 genomes]
rs13250860	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13250922	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13252580	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13254066	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13256408	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13257067	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13257291	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13257720	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13258269	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13261243	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13264242	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13265029	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13266326	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13267846	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13268128	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13268907	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268938	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13269881	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13271572	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13272178	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13272467	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13274160	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13275045	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13275235	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13277735	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13280391	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13280413	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13281179	0.81[JPT][hapmap]
rs13340640	0.85[ASN][1000 genomes]
rs1517304	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1517305	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916810	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16916843	0.86[ASN][1000 genomes]
rs16916878	0.82[JPT][hapmap]
rs1914370	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395825	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2395857	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28671127	0.86[ASN][1000 genomes]
rs3824266	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4259408	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4291261	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4294173	1.00[ASW][hapmap];0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4313145	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4324911	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4330683	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4352840	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4361755	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4395889	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4401852	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4425747	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4442135	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4487755	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4570148	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4584139	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4587320	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4596648	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4612332	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4615560	0.85[ASN][1000 genomes]
rs4618684	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4634632	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4642637	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873206	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873207	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873603	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4873604	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873606	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873608	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873610	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873613	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873616	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873617	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5002416	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5003717	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6983163	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6986984	0.89[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990552	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6996898	0.98[ASN][1000 genomes]
rs6999031	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6999321	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7000485	0.80[ASN][1000 genomes]
rs7000493	0.80[ASN][1000 genomes]
rs7008057	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7010217	0.81[JPT][hapmap]
rs7011046	0.80[CEU][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes]
rs7011225	0.86[ASN][1000 genomes]
rs7012360	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7013587	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7014075	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017450	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718250	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7460311	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7463120	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7464192	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7465225	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs753540	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs756484	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7818832	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7829408	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833777	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7838816	0.98[ASN][1000 genomes]
rs882492	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs884580	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs925761	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs925763	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9298463	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9298464	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9298465	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9298466	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9298467	0.83[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs950687	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs9643466	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643790	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643791	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643792	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643793	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs998709	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv3375906	chr8:52810224-52812772	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3763547	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52808800-52812800	Active TSS	Fetal Brain Female	brain
2	chr8:52809000-52813000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:52809000-52813200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:52809000-52813400	Active TSS	Ovary	ovary
5	chr8:52809000-52814000	Active TSS	GM12878-XiMat	blood
6	chr8:52809200-52812800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:52809200-52812800	Active TSS	K562	blood
8	chr8:52809200-52813000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr8:52809200-52813000	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:52809200-52814000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:52809400-52812800	Active TSS	NHLF	lung
12	chr8:52809400-52813000	Active TSS	Fetal Muscle Leg	muscle
13	chr8:52809400-52813000	Active TSS	Fetal Stomach	stomach
14	chr8:52809600-52812600	Active TSS	Fetal Thymus	thymus
15	chr8:52809600-52812800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:52809600-52813000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:52809600-52813000	Active TSS	Fetal Intestine Large	intestine
18	chr8:52809600-52813000	Active TSS	Right Ventricle	heart
19	chr8:52809600-52813000	Active TSS	NHDF-Ad	bronchial
20	chr8:52809600-52813200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:52809600-52813200	Active TSS	Right Atrium	heart
22	chr8:52809600-52813400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:52809600-52813400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:52809600-52813400	Active TSS	HSMM	muscle
25	chr8:52809600-52813600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:52809600-52813600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:52809800-52812800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:52809800-52812800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:52809800-52812800	Active TSS	Fetal Kidney	kidney
30	chr8:52809800-52812800	Active TSS	Stomach Mucosa	stomach
31	chr8:52809800-52813000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr8:52809800-52813000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:52809800-52813000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:52809800-52813000	Active TSS	Thymus	Thymus
35	chr8:52809800-52813000	Active TSS	HMEC	breast
36	chr8:52809800-52813000	Active TSS	HSMMtube	muscle
37	chr8:52809800-52813200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:52809800-52813200	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr8:52809800-52813200	Active TSS	Colonic Mucosa	Colon
40	chr8:52809800-52813400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:52809800-52813400	Active TSS	Psoas Muscle	Psoas
42	chr8:52809800-52813800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr8:52810000-52812600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr8:52810000-52812600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr8:52810000-52812800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:52810000-52812800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:52810000-52812800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr8:52810000-52812800	Active TSS	Colon Smooth Muscle	Colon
49	chr8:52810000-52812800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr8:52810000-52812800	Active TSS	A549	lung

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