Variant report

Variant	rs2501079
Chromosome Location	chr1:225117222-225117223
allele	C/T
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	CTCF	chr1:225117180-225117330	HRE	kidney:	n/a	n/a
2	EGR1	chr1:225117156-225117852	K562	blood:	n/a	chr1:225117626-225117637 chr1:225117581-225117591 chr1:225117625-225117639 chr1:225117625-225117638 chr1:225117630-225117640 chr1:225117625-225117638 chr1:225117627-225117636 chr1:225117627-225117637 chr1:225117732-225117741
3	YY1	chr1:225117137-225117846	K562	blood:	n/a	chr1:225117589-225117603 chr1:225117728-225117742 chr1:225117731-225117745 chr1:225117736-225117745
4	ZBTB33	chr1:225117070-225117702	HCT-116	colon:	n/a	chr1:225117685-225117695
5	ZBTB7A	chr1:225117102-225117510	HepG2	liver:	n/a	n/a
6	GABPA	chr1:225117183-225117814	MCF-7	breast:	n/a	chr1:225117586-225117595
7	TAF1	chr1:225117112-225117936	K562	blood:	n/a	n/a
8	E2F6	chr1:225117153-225117849	A549	lung:	n/a	chr1:225117728-225117738 chr1:225117732-225117741 chr1:225117734-225117744
9	EGR1	chr1:225117187-225117884	ECC-1	luminal epithelium:	n/a	chr1:225117626-225117637 chr1:225117581-225117591 chr1:225117625-225117639 chr1:225117625-225117638 chr1:225117630-225117640 chr1:225117625-225117638 chr1:225117627-225117636 chr1:225117627-225117637 chr1:225117732-225117741
10	ZC3H11A	chr1:225117219-225117615	K562	blood:	n/a	n/a
11	MAZ	chr1:225117052-225117462	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:225117134-225117742	GM15510	blood:	n/a	n/a
13	TEAD4	chr1:225116980-225117738	ECC-1	luminal epithelium:	n/a	n/a
14	USF1	chr1:225117211-225117658	SK-N-SH	brain:	n/a	n/a
15	MAX	chr1:225116926-225117875	K562	blood:	n/a	chr1:225117594-225117603
16	CREB1	chr1:225117131-225117688	A549	lung:	n/a	n/a
17	E2F6	chr1:225116797-225117930	A549	lung:	n/a	chr1:225117728-225117738 chr1:225117732-225117741 chr1:225117067-225117081 chr1:225117734-225117744
18	MYBL2	chr1:225117218-225117668	HepG2	liver:	n/a	n/a
19	SIN3A	chr1:225117058-225117842	H1-hESC	embryonic stem cell:	n/a	n/a
20	TEAD4	chr1:225116902-225117602	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF1	chr1:225117087-225117695	ECC-1	luminal epithelium:	n/a	chr1:225117661-225117677
22	POLR2A	chr1:225117201-225117622	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr1:225117117-225118412	K562	blood:	n/a	n/a
24	STAT1	chr1:225117061-225117914	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:225117104-225117805	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:225117097-225117868	K562	blood:	n/a	n/a
27	PML	chr1:225117220-225118191	K562	blood:	n/a	n/a
28	TAF1	chr1:225117140-225117744	HepG2	liver:	n/a	n/a
29	RCOR1	chr1:225117072-225118330	K562	blood:	n/a	n/a
30	FOXP2	chr1:225117180-225117783	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr1:225116662-225118212	MCF10A-Er-Src	breast:	n/a	n/a
32	ELF1	chr1:225117212-225117761	K562	blood:	n/a	n/a
33	CEBPD	chr1:225117177-225117620	HepG2	liver:	n/a	n/a
34	HEY1	chr1:225117168-225117899	K562	blood:	n/a	chr1:225117729-225117744
35	RFX5	chr1:225116926-225117831	Hela-S3	cervix:	n/a	n/a
36	ZBTB7A	chr1:225117046-225117538	K562	blood:	n/a	n/a
37	GATA2	chr1:225116954-225117823	SH-SY5Y	brain:	n/a	n/a
38	REST	chr1:225117199-225117495	HepG2	liver:	n/a	n/a
39	CEBPB	chr1:225116949-225117427	K562	blood:	n/a	n/a
40	FOXA1	chr1:225117209-225117579	T-47D	breast:	n/a	n/a
41	PML	chr1:225117173-225117767	MCF-7	breast:	n/a	n/a
42	IRF1	chr1:225117207-225117675	K562	blood:	n/a	n/a
43	TEAD4	chr1:225116976-225117772	ECC-1	luminal epithelium:	n/a	n/a
44	YY1	chr1:225117198-225117734	ECC-1	luminal epithelium:	n/a	chr1:225117589-225117603
45	SP1	chr1:225117078-225117617	A549	lung:	n/a	n/a
46	HDAC2	chr1:225116892-225117687	MCF-7	breast:	n/a	n/a
47	POLR2A	chr1:225117059-225118636	K562	blood:	n/a	n/a
48	POLR2A	chr1:225116968-225117809	ECC-1	luminal epithelium:	n/a	n/a
49	RCOR1	chr1:225117151-225117792	Hela-S3	cervix:	n/a	n/a
50	PML	chr1:225117169-225117826	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:225117194..225117809-chr12:113772563..113773224,2	NB4	blood:
2	chr1:225117129..225118085-chr13:31191178..31192009,2	NB4	blood:
3	chr1:225116699..225117668-chr3:73160108..73161088,2	Hela-S3	cervix:
4	chr1:225117101..225117940-chr2:9982915..9983806,2	Hela-S3	cervix:

Variant related genes	Relation type
DNAH14	TF binding region
ENSG00000115750	Chromatin interaction
ENSG00000132952	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000089060	Chromatin interaction
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 217 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:214)

rs_ID	r²[population]
rs10399959	1.00[EUR][1000 genomes]
rs10495232	1.00[EUR][1000 genomes]
rs1078794	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10915724	1.00[EUR][1000 genomes]
rs10915732	1.00[EUR][1000 genomes]
rs11805350	1.00[EUR][1000 genomes]
rs12059834	1.00[EUR][1000 genomes]
rs12061265	1.00[EUR][1000 genomes]
rs12066443	1.00[EUR][1000 genomes]
rs12069808	1.00[EUR][1000 genomes]
rs12071270	1.00[EUR][1000 genomes]
rs12071776	1.00[EUR][1000 genomes]
rs12074382	1.00[EUR][1000 genomes]
rs12075769	1.00[EUR][1000 genomes]
rs12079808	1.00[EUR][1000 genomes]
rs12080062	1.00[EUR][1000 genomes]
rs12086473	1.00[EUR][1000 genomes]
rs12086802	1.00[EUR][1000 genomes]
rs12097593	1.00[EUR][1000 genomes]
rs12239937	1.00[EUR][1000 genomes]
rs13376360	1.00[EUR][1000 genomes]
rs1395115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1480102	1.00[EUR][1000 genomes]
rs1580956	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844321	1.00[EUR][1000 genomes]
rs16844324	1.00[EUR][1000 genomes]
rs16844328	1.00[EUR][1000 genomes]
rs16844331	1.00[EUR][1000 genomes]
rs16844347	1.00[EUR][1000 genomes]
rs16854034	1.00[EUR][1000 genomes]
rs16854471	1.00[EUR][1000 genomes]
rs16855953	1.00[EUR][1000 genomes]
rs16856828	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2060556	1.00[EUR][1000 genomes]
rs2127558	1.00[EUR][1000 genomes]
rs2244108	1.00[EUR][1000 genomes]
rs2244109	1.00[EUR][1000 genomes]
rs2244198	1.00[EUR][1000 genomes]
rs2245097	1.00[EUR][1000 genomes]
rs2254430	1.00[EUR][1000 genomes]
rs2449262	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449267	0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449268	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449271	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449272	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449275	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449277	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449278	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449279	1.00[EUR][1000 genomes]
rs2449283	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449284	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449294	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449302	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449305	1.00[EUR][1000 genomes]
rs2449306	1.00[EUR][1000 genomes]
rs2449309	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449312	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449317	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449320	0.83[AFR][1000 genomes]
rs2449321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449324	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456338	0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456343	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456344	1.00[EUR][1000 genomes]
rs2456346	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456350	1.00[EUR][1000 genomes]
rs2456352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456354	1.00[EUR][1000 genomes]
rs2489299	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489305	1.00[EUR][1000 genomes]
rs2489307	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489309	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489315	0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489317	0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489318	0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489319	0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489323	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489326	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489331	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489334	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489336	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489339	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489342	0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489345	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489347	0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489349	0.95[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489350	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489351	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489354	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489356	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489357	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489358	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489359	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2489360	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501064	0.81[AFR][1000 genomes]
rs2501065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501066	0.81[AFR][1000 genomes]
rs2501067	0.88[AFR][1000 genomes]
rs2501069	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501072	0.85[AFR][1000 genomes]
rs2501073	0.84[AFR][1000 genomes]
rs2501074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501077	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501080	0.91[AMR][1000 genomes]
rs2501088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501103	1.00[EUR][1000 genomes]
rs2501104	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501112	1.00[EUR][1000 genomes]
rs2501113	0.95[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501117	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501121	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501122	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501128	0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501136	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501137	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501140	0.81[AFR][1000 genomes]
rs2501141	0.81[AFR][1000 genomes]
rs2501142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501148	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501152	0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501156	0.81[AFR][1000 genomes]
rs2501157	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2516334	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2662910	1.00[EUR][1000 genomes]
rs2662911	1.00[EUR][1000 genomes]
rs2662913	1.00[EUR][1000 genomes]
rs2802546	1.00[EUR][1000 genomes]
rs2802547	1.00[EUR][1000 genomes]
rs2802567	1.00[EUR][1000 genomes]
rs2802736	1.00[EUR][1000 genomes]
rs28789844	1.00[EUR][1000 genomes]
rs28871966	1.00[EUR][1000 genomes]
rs2929627	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929629	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929632	0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3102105	1.00[EUR][1000 genomes]
rs3128647	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3991375	1.00[EUR][1000 genomes]
rs4121159	1.00[EUR][1000 genomes]
rs4256778	1.00[EUR][1000 genomes]
rs4275419	1.00[EUR][1000 genomes]
rs4475714	1.00[EUR][1000 genomes]
rs4639722	1.00[EUR][1000 genomes]
rs57535083	1.00[EUR][1000 genomes]
rs58205526	1.00[EUR][1000 genomes]
rs58355180	1.00[EUR][1000 genomes]
rs58651151	1.00[EUR][1000 genomes]
rs58823550	1.00[EUR][1000 genomes]
rs59730608	1.00[EUR][1000 genomes]
rs59730777	1.00[EUR][1000 genomes]
rs59839860	1.00[EUR][1000 genomes]
rs60428528	1.00[EUR][1000 genomes]
rs60434067	1.00[EUR][1000 genomes]
rs60727542	1.00[EUR][1000 genomes]
rs61269802	1.00[EUR][1000 genomes]
rs61329501	1.00[EUR][1000 genomes]
rs61483735	1.00[EUR][1000 genomes]
rs6426164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6656178	1.00[EUR][1000 genomes]
rs6666664	1.00[EUR][1000 genomes]
rs6670335	1.00[EUR][1000 genomes]
rs6673779	1.00[EUR][1000 genomes]
rs6680659	1.00[EUR][1000 genomes]
rs6683197	1.00[EUR][1000 genomes]
rs6689608	1.00[EUR][1000 genomes]
rs6693680	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6694400	1.00[EUR][1000 genomes]
rs6698293	1.00[EUR][1000 genomes]
rs6698942	1.00[EUR][1000 genomes]
rs73129804	1.00[EUR][1000 genomes]
rs7418261	1.00[EUR][1000 genomes]
rs7515136	1.00[EUR][1000 genomes]
rs7523371	1.00[EUR][1000 genomes]
rs7524227	1.00[EUR][1000 genomes]
rs7525497	1.00[EUR][1000 genomes]
rs7526764	1.00[EUR][1000 genomes]
rs7533311	1.00[EUR][1000 genomes]
rs7533415	1.00[EUR][1000 genomes]
rs7535962	1.00[EUR][1000 genomes]
rs7537947	1.00[EUR][1000 genomes]
rs7544960	1.00[EUR][1000 genomes]
rs7550589	1.00[EUR][1000 genomes]
rs7555397	1.00[EUR][1000 genomes]
rs769297	1.00[EUR][1000 genomes]
rs9286991	1.00[EUR][1000 genomes]
rs9426101	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426103	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426104	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9426147	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426149	0.89[AFR][1000 genomes]
rs9426156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426159	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9660934	1.00[EUR][1000 genomes]
rs9725252	1.00[EUR][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	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005824	chr1:225114654-225158871	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225116800-225118000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:225116800-225118200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:225116800-225118400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:225116800-225118400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:225116800-225118400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:225116800-225118400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:225116800-225118600	Active TSS	A549	lung
8	chr1:225116800-225118800	Active TSS	Hela-S3	cervix
9	chr1:225117000-225117400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:225117000-225117400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:225117000-225117400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:225117000-225117400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:225117000-225117400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr1:225117000-225117400	Bivalent Enhancer	Fetal Brain Male	brain
15	chr1:225117000-225117400	Flanking Active TSS	Placenta	Placenta
16	chr1:225117000-225117400	Flanking Active TSS	Fetal Thymus	thymus
17	chr1:225117000-225117400	Flanking Active TSS	HMEC	breast
18	chr1:225117000-225117400	Flanking Active TSS	HUVEC	blood vessel
19	chr1:225117000-225117400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr1:225117000-225117600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:225117000-225117600	Active TSS	GM12878-XiMat	blood
22	chr1:225117000-225117800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:225117000-225117800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:225117000-225117800	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:225117000-225117800	Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:225117000-225117800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
27	chr1:225117000-225117800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr1:225117000-225117800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:225117000-225117800	Active TSS	Esophagus	oesophagus
30	chr1:225117000-225117800	Bivalent/Poised TSS	Left Ventricle	heart
31	chr1:225117000-225117800	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr1:225117000-225117800	Active TSS	Small Intestine	intestine
33	chr1:225117000-225118000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:225117000-225118000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:225117000-225118000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:225117000-225118000	Active TSS	Primary T cells from cord blood	blood
37	chr1:225117000-225118000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:225117000-225118000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:225117000-225118000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:225117000-225118000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr1:225117000-225118000	Active TSS	Colonic Mucosa	Colon
42	chr1:225117000-225118000	Active TSS	Fetal Kidney	kidney
43	chr1:225117000-225118000	Active TSS	Fetal Lung	lung
44	chr1:225117000-225118000	Active TSS	Pancreas	Pancrea
45	chr1:225117000-225118000	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr1:225117000-225118000	Active TSS	Rectal Smooth Muscle	rectum
47	chr1:225117000-225118000	Active TSS	Thymus	Thymus
48	chr1:225117000-225118000	Active TSS	HSMM	muscle
49	chr1:225117000-225118000	Active TSS	HSMMtube	muscle
50	chr1:225117000-225118200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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