Variant report

Variant	rs2516832
Chromosome Location	chr2:99771268-99771269
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:447)
CpG islands
(count:122)
Chromatin interactive
region (count:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:99771103-99771934	Hela-S3	cervix:	n/a	chr2:99771561-99771570
2	GABPA	chr2:99771221-99771821	HepG2	liver:	n/a	chr2:99771586-99771595 chr2:99771522-99771529
3	FOSL2	chr2:99771082-99771902	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:99771097-99771891	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:99770986-99772188	K562	blood:	n/a	n/a
6	BACH1	chr2:99771099-99771837	H1-hESC	embryonic stem cell:	n/a	n/a
7	WRNIP1	chr2:99770718-99772356	GM12878	blood:	n/a	n/a
8	TBP	chr2:99771040-99772001	K562	blood:	n/a	n/a
9	MAX	chr2:99771116-99772026	NB4	blood:	n/a	chr2:99771561-99771570
10	POLR2A	chr2:99770521-99772535	GM12892	blood:	n/a	n/a
11	CREB1	chr2:99771260-99771730	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr2:99770692-99772100	GM12892	blood:	n/a	n/a
13	FOXP2	chr2:99771229-99771819	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr2:99770891-99772472	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:99770271-99772617	K562	blood:	n/a	n/a
16	HDAC2	chr2:99771043-99771941	MCF-7	breast:	n/a	chr2:99771561-99771570
17	GABPA	chr2:99771240-99771815	HepG2	liver:	n/a	chr2:99771586-99771595 chr2:99771522-99771529
18	POLR2A	chr2:99771061-99771853	HUVEC	blood vessel:	n/a	n/a
19	RELA	chr2:99771036-99771995	GM10847	blood:	n/a	n/a
20	POLR2A	chr2:99770983-99772014	GM12878	blood:	n/a	n/a
21	SP1	chr2:99770980-99771954	A549	lung:	n/a	n/a
22	POLR2A	chr2:99770800-99771994	U87	brain:	n/a	n/a
23	POLR2A	chr2:99770913-99772008	K562	blood:	n/a	n/a
24	POLR2A	chr2:99770958-99772008	ECC-1	luminal epithelium:	n/a	n/a
25	MAFF	chr2:99771059-99771454	HepG2	liver:	n/a	n/a
26	USF2	chr2:99771074-99771620	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr2:99770917-99772125	GM12878	blood:	n/a	n/a
28	E2F4	chr2:99771043-99771728	GM12878	blood:	n/a	n/a
29	NFIC	chr2:99770745-99772019	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:99770989-99772526	K562	blood:	n/a	n/a
31	POLR2A	chr2:99770535-99772543	HepG2	liver:	n/a	n/a
32	ARID3A	chr2:99771268-99771561	K562	blood:	n/a	n/a
33	PAX5	chr2:99771227-99771661	GM12892	blood:	n/a	n/a
34	TAF1	chr2:99771187-99771823	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr2:99771041-99772010	K562	blood:	n/a	n/a
36	POLR2A	chr2:99771132-99771736	A549	lung:	n/a	n/a
37	EGR1	chr2:99771253-99771860	K562	blood:	n/a	chr2:99771559-99771572 chr2:99771561-99771571 chr2:99771559-99771573 chr2:99771560-99771571 chr2:99771562-99771571 chr2:99771559-99771572 chr2:99771555-99771577 chr2:99771560-99771574 chr2:99771561-99771571 chr2:99771559-99771572
38	ZKSCAN1	chr2:99770679-99771850	Hela-S3	cervix:	n/a	n/a
39	ATF2	chr2:99771101-99771849	GM12878	blood:	n/a	n/a
40	NFATC1	chr2:99770958-99771924	GM12878	blood:	n/a	n/a
41	REST	chr2:99770775-99772194	H1-neurons	neurons:	n/a	chr2:99771669-99771683
42	E2F6	chr2:99771103-99771721	K562	blood:	n/a	n/a
43	HEY1	chr2:99771030-99771901	K562	blood:	n/a	n/a
44	MYC	chr2:99770962-99772118	K562	blood:	n/a	chr2:99771561-99771570
45	JUND	chr2:99771241-99771897	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr2:99771032-99772023	NB4	blood:	n/a	n/a
47	POLR2A	chr2:99770944-99772094	GM12891	blood:	n/a	n/a
48	ATF1	chr2:99771105-99771946	K562	blood:	n/a	n/a
49	ATF2	chr2:99771221-99771757	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr2:99771018-99772130	GM12892	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:99771248-99771298	SK-N-MC	brain:	n/a
2	chr2:99771248-99771298	AG10803	skin:	n/a
3	chr2:99771248-99771298	HEEpiC	esophagus:	n/a
4	chr2:99771244-99771294	HMEC	breast:	n/a
5	chr2:99771244-99771294	IMR90	lung:	fetal
6	chr2:99771244-99771294	HRPEpiC	eye:	n/a
7	chr2:99771244-99771294	PrEC	prostate:	n/a
8	chr2:99771248-99771298	ovcar-3	ovarian:	n/a
9	chr2:99771244-99771294	GM12891	blood:	n/a
10	chr2:99771248-99771298	NH-A	brain:	n/a
11	chr2:99771248-99771298	IMR90	lung:	fetal
12	chr2:99771248-99771298	MCF-7	breast:	n/a
13	chr2:99771248-99771298	HCM	heart:	n/a
14	chr2:99771244-99771294	HIPEpiC	eye:	n/a
15	chr2:99771244-99771294	K562	blood:	n/a
16	chr2:99771248-99771298	HepG2	liver:	n/a
17	chr2:99771248-99771298	ProgFib	skin:	n/a
18	chr2:99771248-99771298	GM06990	blood:	n/a
19	chr2:99771248-99771298	SAEC	small airway:	n/a
20	chr2:99771244-99771294	AG10803	skin:	n/a
21	chr2:99771248-99771298	K562	blood:	n/a
22	chr2:99771244-99771294	T-47D	breast:	n/a
23	chr2:99771244-99771294	H1-hESC	embryonic stem cell:	embryo
24	chr2:99771244-99771294	ECC-1	luminal epithelium:	n/a
25	chr2:99771248-99771298	Jurkat	blood:	n/a
26	chr2:99771244-99771294	SAEC	small airway:	n/a
27	chr2:99771244-99771294	PFSK-1	brain:	n/a
28	chr2:99771244-99771294	HUVEC	blood vessel:	n/a
29	chr2:99771244-99771294	Hepatocyte	liver:	n/a
30	chr2:99771244-99771294	GM12892	blood:	n/a
31	chr2:99771248-99771298	SK-N-SH_RA	brain:	n/a
32	chr2:99771248-99771298	NT2-D1	testis:	n/a
33	chr2:99771248-99771298	HL-60	blood:	n/a
34	chr2:99771248-99771298	NHDF-neo	bronchial:	n/a
35	chr2:99771244-99771294	Caco-2	colon:	n/a
36	chr2:99771244-99771294	A549	lung:	n/a
37	chr2:99771248-99771298	Hela-S3	cervix:	n/a
38	chr2:99771248-99771298	AG04450	lung:	fetal
39	chr2:99771248-99771298	MCF10A-Er-Src	breast:	n/a
40	chr2:99771244-99771294	NH-A	brain:	n/a
41	chr2:99771248-99771298	RPTEC	kidney:	n/a
42	chr2:99771248-99771298	HAEpiC	amniotic membrane:	n/a
43	chr2:99771244-99771294	SK-N-SH_RA	brain:	n/a
44	chr2:99771244-99771294	GM12878	blood:	n/a
45	chr2:99771244-99771294	HL-60	blood:	n/a
46	chr2:99771248-99771298	H1-hESC	embryonic stem cell:	embryo
47	chr2:99771244-99771294	SK-N-SH	brain:	n/a
48	chr2:99771248-99771298	GM19239	blood:	n/a
49	chr2:99771244-99771294	AoSMC	blood vessel:	n/a
50	chr2:99771248-99771298	HCPEpiC	choroid plexus:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99754528..99760418-chr2:99769364..99773305,11	K562	blood:
2	chr2:99767297..99778137-chr2:99793643..99800044,16	MCF-7	breast:
3	chr2:99769587..99774574-chr2:99795787..99799597,12	MCF-7	breast:
4	chr2:99769803..99772533-chr2:99952128..99954259,2	MCF-7	breast:
5	chr2:99756639..99759461-chr2:99768691..99772730,10	MCF-7	breast:
6	chr2:99769128..99773388-chr2:99951603..99955259,4	K562	blood:
7	chr2:99768084..99772423-chr2:99795960..99799744,7	K562	blood:
8	chr2:99767233..99772869-chr2:99793831..99799744,8	K562	blood:
9	chr2:99770250..99773199-chr2:99783967..99787710,4	MCF-7	breast:
10	chr2:99770887..99773276-chr2:99955255..99957900,2	MCF-7	breast:
11	chr1:109234367..109235217-chr2:99770725..99771724,3	Hela-S3	cervix:
12	chr2:99769755..99772454-chr2:99953389..99955420,3	K562	blood:
13	chr2:99755030..99760884-chr2:99769021..99772906,10	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MITD1-2	chr2:99771156-99771425	NONHSAT072730
2	lnc-MITD1-2	chr2:99771156-99771353	NONHSAT072737
3	lnc-MITD1-2	chr2:99771156-99771324	NONHSAT072738

No data

Variant related genes	Relation type
TSGA10	TF binding region
ENSG00000273155	TF binding region
LIPT1	TF binding region
LIPT1	CpG island
ENSG00000273155	CpG island
TSGA10	CpG island
ENSG00000158417	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000134186	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000273045	Chromatin interaction
ENSG00000115514	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000241962	Chromatin interaction

Extended variants
information (count: 160 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10165534	0.87[ASN][1000 genomes]
rs10179043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10190421	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10196680	0.87[ASN][1000 genomes]
rs1044575	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10865029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11123761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11123762	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123763	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123764	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123766	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123770	0.83[EUR][1000 genomes]
rs1133977	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1133978	0.85[EUR][1000 genomes]
rs11674894	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs11677247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677321	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11678456	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11683107	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11683188	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs11684507	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11684610	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11685759	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11688004	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs11689265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11692336	0.85[EUR][1000 genomes]
rs11692699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11693427	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11695379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11695751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11883676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11890338	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11895749	0.85[EUR][1000 genomes]
rs11900670	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12464710	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12467679	0.87[ASN][1000 genomes]
rs12468807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12473029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12477754	0.87[ASN][1000 genomes]
rs12477978	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12613624	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12619780	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12621007	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12987548	0.83[EUR][1000 genomes]
rs12992218	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992930	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12995473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999417	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13000731	0.86[EUR][1000 genomes]
rs13004491	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13008171	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs13008496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13009147	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13012481	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13018891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020339	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13022329	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13023479	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13023501	0.81[EUR][1000 genomes]
rs13023744	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13026928	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13030961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13033012	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs13035311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1349778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1349779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1453561	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453562	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453563	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1580068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17708218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17759607	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1993230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2045057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2171359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2171362	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2309524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2309581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516828	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516829	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516830	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2516833	0.86[EUR][1000 genomes]
rs2516834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2516835	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2516836	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2632260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2632261	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2632277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2632283	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2632284	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2964969	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2969379	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34252185	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34272114	0.85[EUR][1000 genomes]
rs34766932	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35461437	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36071868	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4324365	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4340581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4347885	0.85[EUR][1000 genomes]
rs4402818	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4588238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4622780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4850897	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4851184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4851187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851188	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs6542852	0.84[ASN][1000 genomes]
rs6542858	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6542863	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542866	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs6542868	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs6542869	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542870	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6704766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6708576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6708878	0.86[EUR][1000 genomes]
rs6712704	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6717723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726618	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6727749	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs6733285	0.92[CEU][hapmap]
rs6736064	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6739579	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6741772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6741773	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6743355	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6751927	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753650	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6756650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6757019	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6757661	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6759354	0.87[ASN][1000 genomes]
rs720228	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs720229	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs7349217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7558004	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7558239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7572660	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7577477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7584809	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7604557	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7605843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7608938	0.86[EUR][1000 genomes]
rs8179690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs896886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9308816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs972768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9808541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9941561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv535839	chr2:99742621-99793747	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2516832	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs2516832	TSGA10	Cis_1M	lymphoblastoid	RTeQTL
rs2516832	MITD1	cis	Nerve Tibial	GTEx
rs2516832	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs2516832	MITD1	Cis_1M	lymphoblastoid	RTeQTL
rs2516832	TSGA10	cis	Esophagus Mucosa	GTEx
rs2516832	LIPT1	cis	uninvolved skin	skin_eQTL
rs2516832	LIPT1	cis	normal skin	skin_eQTL
rs2516832	TSGA10	cis	Thyroid	GTEx
rs2516832	MITD1	cis	Esophagus Mucosa	GTEx
rs2516832	TSGA10	cis	lung	GTEx
rs2516832	TSGA10	cis	multi-tissue	Pritchard
rs2516832	LIPT1	cis	lesional skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99770200-99772600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:99770400-99772200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:99770400-99772200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr2:99770400-99772200	Active TSS	Right Ventricle	heart
5	chr2:99770400-99772400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:99770400-99772400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:99770400-99772400	Active TSS	Left Ventricle	heart
8	chr2:99770400-99772600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:99770400-99772600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:99770400-99772600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:99770400-99772600	Active TSS	NHLF	lung
12	chr2:99770600-99771400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr2:99770600-99771400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:99770600-99772000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr2:99770600-99772000	Active TSS	Fetal Brain Male	brain
16	chr2:99770600-99772200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:99770600-99772200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:99770600-99772200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:99770600-99772200	Active TSS	Colonic Mucosa	Colon
20	chr2:99770600-99772200	Active TSS	Psoas Muscle	Psoas
21	chr2:99770600-99772400	Active TSS	NHDF-Ad	bronchial
22	chr2:99770600-99772600	Active TSS	Fetal Muscle Trunk	muscle
23	chr2:99770600-99772600	Active TSS	HSMMtube	muscle
24	chr2:99770800-99772000	Active TSS	Colon Smooth Muscle	Colon
25	chr2:99770800-99772000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:99770800-99772200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:99770800-99772200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:99770800-99772200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:99770800-99772200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:99770800-99772200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:99770800-99772200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:99770800-99772200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:99770800-99772200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:99770800-99772200	Active TSS	Aorta	Aorta
35	chr2:99770800-99772400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:99770800-99772400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:99770800-99772400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:99770800-99772400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:99770800-99772400	Active TSS	Pancreas	Pancrea
40	chr2:99770800-99772600	Active TSS	Fetal Intestine Large	intestine
41	chr2:99770800-99772600	Active TSS	Ovary	ovary
42	chr2:99770800-99772600	Active TSS	Right Atrium	heart
43	chr2:99770800-99772800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:99770800-99772800	Active TSS	Brain Hippocampus Middle	brain
45	chr2:99770800-99772800	Active TSS	A549	lung
46	chr2:99771000-99771800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:99771000-99771800	Active TSS	Fetal Brain Female	brain
48	chr2:99771000-99771800	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr2:99771000-99772000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:99771000-99772000	Active TSS	Primary T helper cells PMA-I stimulated	--

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