Variant report

Variant	rs17329242
Chromosome Location	chr11:4885150-4885151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:4884811-4885319	HepG2	liver:	n/a	chr11:4884971-4884982 chr11:4884971-4884984

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4884965..4887784-chr11:4890382..4892090,2	K562	blood:

Variant related genes	Relation type
OR51H1P	TF binding region

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs1030722	0.89[AMR][1000 genomes]
rs10500625	1.00[CEU][hapmap]
rs10500626	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[MKK][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs10500631	1.00[CEU][hapmap]
rs11034067	0.83[CEU][hapmap];0.87[AMR][1000 genomes]
rs11034071	0.83[CEU][hapmap]
rs11034086	0.87[MKK][hapmap]
rs11034089	0.83[CEU][hapmap];0.87[AMR][1000 genomes]
rs11034090	0.83[CEU][hapmap];0.87[AMR][1000 genomes]
rs11034094	0.83[CEU][hapmap]
rs12785245	0.81[CEU][hapmap];0.91[AMR][1000 genomes]
rs12785274	0.91[CEU][hapmap]
rs12786973	0.91[CEU][hapmap]
rs12787796	0.83[CEU][hapmap]
rs12788102	0.85[MEX][hapmap];0.84[AMR][1000 genomes]
rs12788447	1.00[CEU][hapmap]
rs12789215	0.89[AMR][1000 genomes]
rs12789492	0.85[MEX][hapmap];0.89[AMR][1000 genomes]
rs12791402	0.89[AMR][1000 genomes]
rs12792898	0.87[AMR][1000 genomes]
rs12793425	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12794880	0.89[AMR][1000 genomes]
rs12794894	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[MKK][hapmap];0.80[TSI][hapmap]
rs12795212	0.81[CEU][hapmap];0.91[AMR][1000 genomes]
rs12795377	0.83[AMR][1000 genomes]
rs12796015	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MKK][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs12796618	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12797008	0.89[AMR][1000 genomes]
rs12797269	0.89[AMR][1000 genomes]
rs12799928	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12801309	0.89[AMR][1000 genomes]
rs12801339	0.91[AMR][1000 genomes]
rs12801368	0.91[CEU][hapmap]
rs12801465	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12801757	0.85[MEX][hapmap];0.89[AMR][1000 genomes]
rs12802561	0.89[AMR][1000 genomes]
rs12802647	0.89[AMR][1000 genomes]
rs12802922	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs12804065	0.89[AMR][1000 genomes]
rs12804676	1.00[CEU][hapmap]
rs12806014	1.00[CEU][hapmap]
rs12806476	0.85[MEX][hapmap];0.89[AMR][1000 genomes]
rs12806727	0.89[EUR][1000 genomes]
rs12808215	0.85[MEX][hapmap];0.89[AMR][1000 genomes]
rs1433899	1.00[CEU][hapmap]
rs1433913	0.89[AMR][1000 genomes]
rs1541946	0.83[CEU][hapmap]
rs1594811	0.89[AMR][1000 genomes]
rs1594812	0.85[MEX][hapmap];0.89[AMR][1000 genomes]
rs1594813	0.89[AMR][1000 genomes]
rs1594814	0.89[AMR][1000 genomes]
rs17227393	0.85[MEX][hapmap];0.83[AMR][1000 genomes]
rs17227456	0.91[AMR][1000 genomes]
rs17227484	0.89[AMR][1000 genomes]
rs17227547	0.89[AMR][1000 genomes]
rs17227809	0.89[AMR][1000 genomes]
rs17227978	0.85[MEX][hapmap];0.89[AMR][1000 genomes]
rs17228092	0.89[AMR][1000 genomes]
rs17228176	0.83[CEU][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.87[AMR][1000 genomes]
rs17228183	0.83[CEU][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.89[AMR][1000 genomes]
rs17228218	0.83[CEU][hapmap];0.89[AMR][1000 genomes]
rs17247598	0.85[CEU][hapmap];0.91[AMR][1000 genomes]
rs17249369	0.91[CEU][hapmap]
rs17249695	0.83[CEU][hapmap]
rs17250199	0.91[CEU][hapmap]
rs17251220	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17251261	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17324609	0.87[AMR][1000 genomes]
rs17325330	0.89[AMR][1000 genomes]
rs17325477	0.89[AMR][1000 genomes]
rs17325567	0.85[MEX][hapmap];0.89[AMR][1000 genomes]
rs17325742	0.85[MEX][hapmap]
rs17327254	0.85[MEX][hapmap];0.80[MKK][hapmap]
rs17327845	0.91[CEU][hapmap]
rs17327907	0.91[CEU][hapmap]
rs17328143	0.83[CEU][hapmap]
rs17328337	0.83[CEU][hapmap]
rs17328371	0.87[MKK][hapmap]
rs17328565	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17337601	0.84[EUR][1000 genomes]
rs17337649	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MKK][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs1865282	0.83[CEU][hapmap]
rs1897739	1.00[ASW][hapmap];0.80[TSI][hapmap];0.91[AMR][1000 genomes]
rs2164014	0.89[AMR][1000 genomes]
rs2412395	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2412433	0.89[AMR][1000 genomes]
rs2898964	0.89[AMR][1000 genomes]
rs2898965	0.89[AMR][1000 genomes]
rs34009241	0.89[AMR][1000 genomes]
rs34012768	0.89[AMR][1000 genomes]
rs34024161	0.87[AMR][1000 genomes]
rs34104979	0.89[AMR][1000 genomes]
rs34170551	0.89[AMR][1000 genomes]
rs34231378	0.89[AMR][1000 genomes]
rs34233903	0.89[AMR][1000 genomes]
rs34234149	0.89[AMR][1000 genomes]
rs34238074	0.89[AMR][1000 genomes]
rs34238923	0.89[AMR][1000 genomes]
rs34245878	0.87[AMR][1000 genomes]
rs34296834	0.89[AMR][1000 genomes]
rs34301246	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34352527	0.89[AMR][1000 genomes]
rs34367456	0.87[AMR][1000 genomes]
rs34386616	0.87[AMR][1000 genomes]
rs34471580	0.89[AMR][1000 genomes]
rs34583466	0.84[EUR][1000 genomes]
rs34605374	0.89[AMR][1000 genomes]
rs34740482	0.89[AMR][1000 genomes]
rs34742470	0.84[EUR][1000 genomes]
rs34758607	0.87[AMR][1000 genomes]
rs34774719	0.89[AMR][1000 genomes]
rs34775015	0.89[AMR][1000 genomes]
rs34798636	0.89[AMR][1000 genomes]
rs34885098	0.91[AMR][1000 genomes]
rs34971311	0.84[AMR][1000 genomes]
rs35003053	0.87[AMR][1000 genomes]
rs35045960	0.89[AMR][1000 genomes]
rs35094994	0.87[AMR][1000 genomes]
rs35265535	0.89[AMR][1000 genomes]
rs35324703	0.87[AMR][1000 genomes]
rs35408660	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35628152	0.87[AMR][1000 genomes]
rs35632863	0.89[AMR][1000 genomes]
rs35720831	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35838746	0.87[AMR][1000 genomes]
rs35902686	0.89[AMR][1000 genomes]
rs35918613	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35956756	0.87[AMR][1000 genomes]
rs36009426	0.89[AMR][1000 genomes]
rs36060165	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36093088	0.89[AMR][1000 genomes]
rs4910672	0.84[AMR][1000 genomes]
rs4910673	0.89[AMR][1000 genomes]
rs4910677	0.85[AMR][1000 genomes]
rs4910679	0.89[AMR][1000 genomes]
rs4910686	0.91[CEU][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap]
rs4910687	0.83[CEU][hapmap]
rs4910688	0.82[CEU][hapmap]
rs4910691	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58754867	0.89[AMR][1000 genomes]
rs60113282	0.89[AMR][1000 genomes]
rs60249619	0.89[AMR][1000 genomes]
rs60548866	0.89[AMR][1000 genomes]
rs60617306	0.89[AMR][1000 genomes]
rs66473029	0.89[AMR][1000 genomes]
rs66519116	0.89[AMR][1000 genomes]
rs66751800	0.89[AMR][1000 genomes]
rs67119549	0.89[AMR][1000 genomes]
rs67176708	0.89[AMR][1000 genomes]
rs67885020	0.87[AMR][1000 genomes]
rs68127593	0.89[AMR][1000 genomes]
rs71480714	0.87[AMR][1000 genomes]
rs71480715	0.89[AMR][1000 genomes]
rs71480716	0.91[AMR][1000 genomes]
rs71480717	0.89[AMR][1000 genomes]
rs71480718	0.89[AMR][1000 genomes]
rs71480719	0.89[AMR][1000 genomes]
rs71480720	0.89[AMR][1000 genomes]
rs73399018	0.89[AMR][1000 genomes]
rs73399021	0.87[AMR][1000 genomes]
rs73399027	0.89[AMR][1000 genomes]
rs73399028	0.89[AMR][1000 genomes]
rs73399030	0.89[AMR][1000 genomes]
rs7925039	0.92[EUR][1000 genomes]
rs7948040	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	esv2760633	chr11:4803980-4910384	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1035355	chr11:4805922-4907672	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1039703	chr11:4806669-4910372	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv553176	chr11:4806706-4909000	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv553178	chr11:4806872-4909000	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv553179	chr11:4806872-4910224	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1045537	chr11:4807304-4904064	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv553181	chr11:4811933-4910224	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv553182	chr11:4814850-4909000	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv1035941	chr11:4815059-4904064	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv553183	chr11:4815348-4909000	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv467666	chr11:4815348-4917089	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv553184	chr11:4815348-4917089	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv553185	chr11:4816548-4905202	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
18	nsv553188	chr11:4823783-4909000	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
19	nsv528215	chr11:4871506-4886293	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv10654	chr11:4880507-4889847	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv2760217	chr11:4880892-4888929	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4882800-4885600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr11:4883000-4886000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr11:4883200-4885200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:4883400-4886000	Enhancers	Fetal Heart	heart
5	chr11:4884000-4885400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:4884600-4885200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:4884600-4885200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:4884600-4886000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:4884800-4885200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:4884800-4885400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:4885000-4885400	Enhancers	H9 Cell Line	embryonic stem cell

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