Variant report

Variant	rs2282067
Chromosome Location	chr9:100396336-100396337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:221)
CpG islands
(count:61)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:221 , 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	BCLAF1	chr9:100395021-100396733	GM12878	blood:	n/a	chr9:100396673-100396682 chr9:100395612-100395621 chr9:100396377-100396386 chr9:100396312-100396321
2	SIN3AK20	chr9:100394910-100396672	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:100394061-100396885	MCF10A-Er-Src	breast:	n/a	n/a
4	TCF12	chr9:100394697-100396492	A549	lung:	n/a	chr9:100395316-100395325
5	BHLHE40	chr9:100394719-100396515	K562	blood:	n/a	chr9:100395405-100395414 chr9:100395405-100395414
6	POLR2A	chr9:100394139-100396624	HepG2	liver:	n/a	n/a
7	TAF1	chr9:100395213-100396374	HepG2	liver:	n/a	n/a
8	TAF1	chr9:100394972-100396517	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr9:100394453-100396602	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr9:100394713-100396337	K562	blood:	n/a	n/a
11	PAX5	chr9:100395221-100396364	GM12878	blood:	n/a	chr9:100395550-100395559
12	YY1	chr9:100395091-100396473	A549	lung:	n/a	chr9:100395414-100395428 chr9:100396375-100396386
13	POLR2A	chr9:100394656-100396487	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr9:100394938-100396380	K562	blood:	n/a	n/a
15	POLR2A	chr9:100394917-100396564	U87	brain:	n/a	n/a
16	POLR2A	chr9:100395157-100396535	MCF-7	breast:	n/a	n/a
17	YY1	chr9:100395136-100396339	ECC-1	luminal epithelium:	n/a	chr9:100395414-100395428
18	TEAD4	chr9:100395750-100396384	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr9:100394934-100396404	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr9:100394923-100396551	U87	brain:	n/a	n/a
21	HEY1	chr9:100394414-100396372	K562	blood:	n/a	chr9:100395647-100395656 chr9:100395645-100395654 chr9:100395746-100395761 chr9:100395405-100395414
22	MXI1	chr9:100394342-100397180	IMR90	lung:	n/a	n/a
23	MYC	chr9:100394835-100396378	NB4	blood:	n/a	n/a
24	FOXM1	chr9:100394850-100396409	GM12878	blood:	n/a	n/a
25	STAT5A	chr9:100395896-100396693	GM12878	blood:	n/a	chr9:100396373-100396385
26	POLR2A	chr9:100394523-100396337	K562	blood:	n/a	n/a
27	POLR2A	chr9:100395078-100396551	HL-60	blood:	n/a	n/a
28	POLR2A	chr9:100395101-100396348	GM12878	blood:	n/a	n/a
29	POLR2A	chr9:100394473-100397011	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr9:100394849-100396630	Raji	blood:	n/a	n/a
31	POLR2A	chr9:100394938-100396403	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr9:100394961-100396378	GM12878	blood:	n/a	n/a
33	MAX	chr9:100394986-100396521	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr9:100395029-100396395	U87	brain:	n/a	n/a
35	TAF1	chr9:100394583-100396507	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr9:100394632-100396515	Hela-S3	cervix:	n/a	n/a
37	YY1	chr9:100395114-100396444	K562	blood:	n/a	chr9:100395414-100395428 chr9:100396375-100396386
38	BHLHE40	chr9:100394615-100396533	GM12878	blood:	n/a	chr9:100395405-100395414 chr9:100395405-100395414
39	EP300	chr9:100395289-100396492	ECC-1	luminal epithelium:	n/a	chr9:100395315-100395325 chr9:100396213-100396229 chr9:100395915-100395931 chr9:100395773-100395782 chr9:100395662-100395669
40	POLR2A	chr9:100394147-100396696	H1-neurons	neurons:	n/a	n/a
41	TCF12	chr9:100395050-100396465	ECC-1	luminal epithelium:	n/a	chr9:100395316-100395325
42	MBD4	chr9:100395945-100396353	HepG2	liver:	n/a	n/a
43	UBTF	chr9:100394873-100396934	K562	blood:	n/a	n/a
44	MAX	chr9:100394929-100396748	NB4	blood:	n/a	n/a
45	REST	chr9:100394895-100396493	HL-60	blood:	n/a	n/a
46	POLR2A	chr9:100394482-100396470	GM12892	blood:	n/a	n/a
47	TAF1	chr9:100395122-100396475	MCF-7	breast:	n/a	n/a
48	MAX	chr9:100394972-100396450	HepG2	liver:	n/a	n/a
49	POLR2A	chr9:100394904-100396528	GM18951	blood:	n/a	n/a
50	POLR2A	chr9:100395112-100396358	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:100396302-100396352	ovcar-3	ovarian:	n/a
2	chr9:100396302-100396352	GM12891	blood:	n/a
3	chr9:100396302-100396352	SK-N-SH	brain:	n/a
4	chr9:100396302-100396352	HMEC	breast:	n/a
5	chr9:100396302-100396352	HIPEpiC	eye:	n/a
6	chr9:100396302-100396352	Caco-2	colon:	n/a
7	chr9:100396302-100396352	HAEpiC	amniotic membrane:	n/a
8	chr9:100396302-100396352	MCF10A-Er-Src	breast:	n/a
9	chr9:100396302-100396352	IMR90	lung:	fetal
10	chr9:100396302-100396352	BJ	skin:	n/a
11	chr9:100396302-100396352	HNPCEpiC	eye:	n/a
12	chr9:100396302-100396352	AG09319	gingival:	n/a
13	chr9:100396302-100396352	SKMC	muscle:	n/a
14	chr9:100396302-100396352	GM19239	blood:	n/a
15	chr9:100396302-100396352	HCF	heart:	n/a
16	chr9:100396302-100396352	PrEC	prostate:	n/a
17	chr9:100396302-100396352	GM06990	blood:	n/a
18	chr9:100396302-100396352	Hepatocyte	liver:	n/a
19	chr9:100396302-100396352	HUVEC	blood vessel:	n/a
20	chr9:100396302-100396352	PANC-1	pancreas:	n/a
21	chr9:100396302-100396352	HL-60	blood:	n/a
22	chr9:100396302-100396352	NHDF-neo	bronchial:	n/a
23	chr9:100396302-100396352	A549	lung:	n/a
24	chr9:100396302-100396352	U87	brain:	n/a
25	chr9:100396302-100396352	NHBE	bronchial:	n/a
26	chr9:100396302-100396352	BE2_C	brain:	n/a
27	chr9:100396302-100396352	SK-N-MC	brain:	n/a
28	chr9:100396302-100396352	SK-N-SH_RA	brain:	n/a
29	chr9:100396302-100396352	HCPEpiC	choroid plexus:	n/a
30	chr9:100396302-100396352	HRPEpiC	eye:	n/a
31	chr9:100396302-100396352	HCM	heart:	n/a
32	chr9:100396302-100396352	GM12878	blood:	n/a
33	chr9:100396302-100396352	AG10803	skin:	n/a
34	chr9:100396302-100396352	K562	blood:	n/a
35	chr9:100396302-100396352	AG04450	lung:	fetal
36	chr9:100396302-100396352	T-47D	breast:	n/a
37	chr9:100396302-100396352	Jurkat	blood:	n/a
38	chr9:100396302-100396352	HEK293	kidney:	embryo
39	chr9:100396302-100396352	HCT-116	colon:	n/a
40	chr9:100396302-100396352	CMK	blood:	n/a
41	chr9:100396302-100396352	HepG2	liver:	n/a
42	chr9:100396302-100396352	NH-A	brain:	n/a
43	chr9:100396302-100396352	HEEpiC	esophagus:	n/a
44	chr9:100396302-100396352	SAEC	small airway:	n/a
45	chr9:100396302-100396352	AG04449	skin:	fetal
46	chr9:100396302-100396352	NB4	blood:	n/a
47	chr9:100396302-100396352	ProgFib	skin:	n/a
48	chr9:100396302-100396352	AoSMC	blood vessel:	n/a
49	chr9:100396302-100396352	MCF-7	breast:	n/a
50	chr9:100396302-100396352	LNCaP	prostate:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18391959..18392574-chr9:100395508..100396344,3	Hela-S3	cervix:
2	chr9:100393858..100397326-chr9:100457081..100460285,5	MCF-7	breast:
3	chr17:62657981..62658934-chr9:100395545..100396374,2	NB4	blood:
4	chr9:100394431..100399065-chr9:100743200..100747046,6	K562	blood:
5	chr9:100393846..100397319-chr9:100457855..100461087,4	MCF-7	breast:
6	chr9:100396023..100398161-chr9:100433868..100436348,2	MCF-7	breast:
7	chr9:100378318..100380462-chr9:100395388..100397113,2	K562	blood:
8	chr1:16839110..16841676-chr9:100394541..100396656,2	MCF-7	breast:
9	chr9:100395301..100398247-chr9:100745097..100747092,2	MCF-7	breast:
10	chr9:100394343..100396600-chr9:100677965..100680117,2	MCF-7	breast:
11	chr9:100364434..100366925-chr9:100393876..100396589,2	MCF-7	breast:
12	chr5:218468..219064-chr9:100395886..100396513,2	NB4	blood:
13	chr9:100172235..100177344-chr9:100393372..100396960,5	K562	blood:
14	chr9:100379940..100382784-chr9:100394672..100397527,3	MCF-7	breast:
15	chr17:80374866..80376675-chr9:100395383..100397394,2	MCF-7	breast:
16	chr9:100279156..100280709-chr9:100395787..100397430,2	K562	blood:
17	chr9:100228650..100231026-chr9:100395241..100396818,2	K562	blood:
18	chr9:100393798..100396909-chr9:100744219..100748139,5	MCF-7	breast:
19	chr9:100263644..100266244-chr9:100394289..100397266,4	K562	blood:
20	chr9:100393929..100396893-chr9:100683273..100687162,3	K562	blood:

No data

Variant related genes	Relation type
TSTD2	TF binding region
TSTD2	CpG island
ENSG00000136925	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000228174	Chromatin interaction
ENSG00000136937	Chromatin interaction
ENSG00000261135	Chromatin interaction
ENSG00000136842	Chromatin interaction
ENSG00000169660	Chromatin interaction
ENSG00000136938	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000201239	Chromatin interaction
ENSG00000196116	Chromatin interaction
ENSG00000108854	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000073578	Chromatin interaction
ENSG00000181396	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000201830	Chromatin interaction

Extended variants
information (count: 190 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:187)

rs_ID	r²[population]
rs10119687	0.90[CHD][hapmap]
rs1034098	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1034099	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[ASN][1000 genomes]
rs1034100	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10512254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1116208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1126122	1.00[ASN][1000 genomes]
rs12345701	0.90[ASN][1000 genomes]
rs12349801	0.85[ASN][1000 genomes]
rs14066	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1411344	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1543636	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16922319	0.95[ASN][1000 genomes]
rs16923033	0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs16923041	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16923112	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs16923269	1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs1813875	0.82[AFR][1000 genomes]
rs1928641	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1928642	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2282066	1.00[ASW][hapmap];1.00[CHB][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];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2297155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2297156	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2297157	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2297158	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2297159	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2297160	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2297161	0.82[ASN][1000 genomes]
rs2401635	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2668794	0.82[JPT][hapmap]
rs2668795	0.82[JPT][hapmap]
rs2668797	0.82[JPT][hapmap]
rs2805783	0.82[JPT][hapmap]
rs2808681	0.82[JPT][hapmap]
rs28403588	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28403589	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3176623	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176624	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176626	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176628	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176629	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176634	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3176637	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176638	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176642	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3176644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176645	0.87[ASN][1000 genomes]
rs3176651	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176654	0.87[ASN][1000 genomes]
rs3176659	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176665	0.87[ASN][1000 genomes]
rs3176668	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176669	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176670	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176673	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3176675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176682	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176685	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176688	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176694	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176698	0.87[ASN][1000 genomes]
rs3176700	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3176703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3176708	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176714	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3176723	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176726	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3176734	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs3176735	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176736	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176739	0.87[ASN][1000 genomes]
rs3176740	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176744	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176747	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3176752	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs3176758	0.87[ASN][1000 genomes]
rs3176759	0.87[ASN][1000 genomes]
rs3750368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3750369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3750370	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3763606	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs3802472	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3802473	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3802474	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3824494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3897841	0.95[ASN][1000 genomes]
rs41274252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55966848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56052819	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs56060429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56164437	0.95[ASN][1000 genomes]
rs56200116	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57188235	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57598118	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57940370	0.87[ASN][1000 genomes]
rs58146508	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58387091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58390229	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58637778	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58878935	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58933803	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59205756	0.87[ASN][1000 genomes]
rs59354722	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs59478543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59662386	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59775587	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs59791764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59992945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60026475	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60028882	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60055057	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60104153	0.88[AMR][1000 genomes]
rs60359353	1.00[ASN][1000 genomes]
rs60463150	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs60596698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60653177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60821994	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs60822454	0.80[ASN][1000 genomes]
rs61152667	0.97[ASN][1000 genomes]
rs61208411	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61221847	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61276200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61440789	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61445476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61739366	0.86[AFR][1000 genomes]
rs6478304	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6478305	0.85[AFR][1000 genomes]
rs7018546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7025403	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7036604	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7045160	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7049183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7341850	1.00[ASW][hapmap];1.00[CHB][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[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498323	0.85[AFR][1000 genomes]
rs73498324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498329	0.83[AFR][1000 genomes]
rs73498332	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498347	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498348	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498358	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498359	0.82[AFR][1000 genomes]
rs73498362	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73498377	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73498380	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73498381	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73498394	0.87[ASN][1000 genomes]
rs73500325	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73500326	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73500328	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73500393	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73500395	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73500396	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73500397	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73500398	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73500400	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73502204	0.87[ASN][1000 genomes]
rs73551090	0.86[AFR][1000 genomes]
rs73552509	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73552512	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73552520	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73554629	0.97[ASN][1000 genomes]
rs73554631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73554641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73554646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73554650	0.86[AFR][1000 genomes]
rs73554652	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7850986	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7853179	0.81[ASW][hapmap];0.91[LWK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs7856316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7857174	0.93[ASW][hapmap];0.87[GIH][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];0.86[AFR][1000 genomes]
rs7859684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7859979	0.93[ASW][hapmap];0.87[GIH][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];0.86[AFR][1000 genomes]
rs7862356	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7866961	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7867046	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7869683	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs953198	0.82[JPT][hapmap]
rs9539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9777684	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2282067	TMOD1	cis	lymphoblastoid	seeQTL
rs2282067	XPA	cis	lymphoblastoid	seeQTL
rs2282067	TSTD2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100393800-100397200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:100394000-100396600	Active TSS	Stomach Smooth Muscle	stomach
3	chr9:100394000-100397000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr9:100394000-100397200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr9:100394000-100397600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr9:100394000-100397600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:100394200-100397200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:100394200-100397200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr9:100394200-100397200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:100394200-100397200	Active TSS	Colonic Mucosa	Colon
11	chr9:100394200-100397800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr9:100394200-100398600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr9:100394400-100396800	Active TSS	Aorta	Aorta
14	chr9:100394400-100396800	Active TSS	Placenta Amnion	Placenta Amnion
15	chr9:100394400-100396800	Bivalent/Poised TSS	HepG2	liver
16	chr9:100394400-100397000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr9:100394400-100397000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:100394400-100397000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:100394400-100397000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:100394400-100397000	Active TSS	Esophagus	oesophagus
21	chr9:100394400-100397000	Active TSS	Pancreas	Pancrea
22	chr9:100394400-100397000	Active TSS	Stomach Mucosa	stomach
23	chr9:100394400-100397200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:100394400-100397200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:100394400-100397200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:100394400-100397200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:100394400-100397200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:100394400-100397200	Active TSS	Fetal Muscle Trunk	muscle
29	chr9:100394400-100397200	Active TSS	NHDF-Ad	bronchial
30	chr9:100394400-100397400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:100394400-100397600	Active TSS	Psoas Muscle	Psoas
32	chr9:100394400-100398000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:100394400-100399200	Active TSS	Right Atrium	heart
34	chr9:100394600-100396400	Active TSS	Rectal Smooth Muscle	rectum
35	chr9:100394600-100396600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:100394600-100396600	Active TSS	Colon Smooth Muscle	Colon
37	chr9:100394600-100396600	Active TSS	Fetal Kidney	kidney
38	chr9:100394600-100396600	Active TSS	Fetal Stomach	stomach
39	chr9:100394600-100396800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:100394600-100396800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr9:100394600-100396800	Active TSS	Lung	lung
42	chr9:100394600-100396800	Active TSS	HMEC	breast
43	chr9:100394600-100397000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr9:100394600-100397000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr9:100394600-100397000	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr9:100394600-100397000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:100394600-100397000	Active TSS	Ovary	ovary
48	chr9:100394600-100397200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr9:100394600-100397200	Active TSS	Muscle Satellite Cultured Cells	--
50	chr9:100394600-100397200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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