Variant report

Variant	rs7949235
Chromosome Location	chr11:4884303-4884304
allele	A/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	HDAC2	chr11:4884009-4884429	H1-hESC	embryonic stem cell:	n/a	n/a
2	POU5F1	chr11:4884018-4884353	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr11:4884032-4884378	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr11:4884136-4884404	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF12	chr11:4884104-4884436	H1-hESC	embryonic stem cell:	n/a	n/a
6	USF1	chr11:4884065-4884357	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3AK20	chr11:4884120-4884354	H1-hESC	embryonic stem cell:	n/a	n/a
8	NANOG	chr11:4884148-4884369	H1-hESC	embryonic stem cell:	n/a	chr11:4884173-4884187
9	SIN3A	chr11:4884024-4884445	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr11:4884129-4884392	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr11:4883960-4884526	H1-hESC	embryonic stem cell:	n/a	n/a
12	EP300	chr11:4884112-4884461	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr11:4884100-4884424	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr11:4883985-4884467	H1-hESC	embryonic stem cell:	n/a	chr11:4884084-4884096 chr11:4884085-4884099 chr11:4884084-4884096
15	SP1	chr11:4884041-4884459	H1-hESC	embryonic stem cell:	n/a	chr11:4884084-4884096 chr11:4884085-4884099 chr11:4884084-4884096
16	YY1	chr11:4884076-4884365	H1-hESC	embryonic stem cell:	n/a	n/a
17	TEAD4	chr11:4884042-4884503	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
OR51H1P	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1015594	0.82[JPT][hapmap]
rs10768352	1.00[CHB][hapmap]
rs10836748	1.00[CHB][hapmap]
rs10836762	0.97[ASN][1000 genomes]
rs10836850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10836851	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836856	1.00[ASN][1000 genomes]
rs10836868	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10836896	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10836912	1.00[CHB][hapmap]
rs11034193	1.00[CHB][hapmap]
rs11034203	1.00[CHB][hapmap]
rs11034360	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11034368	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11034418	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11034428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11034429	1.00[CHB][hapmap]
rs11034467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11034493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11034541	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11034563	1.00[CHB][hapmap]
rs11034615	1.00[CHB][hapmap]
rs1155740	0.82[JPT][hapmap]
rs11600256	1.00[CHB][hapmap]
rs11601065	1.00[CHB][hapmap]
rs11602499	1.00[CHB][hapmap]
rs11603903	0.82[JPT][hapmap]
rs12273277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12276692	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12291286	1.00[CHB][hapmap]
rs12360722	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12361514	1.00[CHB][hapmap]
rs12361955	1.00[CHB][hapmap]
rs12364864	1.00[CHB][hapmap]
rs1347274	1.00[CHB][hapmap]
rs1368823	1.00[CHB][hapmap]
rs1368824	1.00[CHB][hapmap]
rs1433917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1433918	0.82[JPT][hapmap]
rs1583350	1.00[CHB][hapmap]
rs16906639	1.00[CHB][hapmap]
rs16938619	1.00[JPT][hapmap]
rs17250052	1.00[CHB][hapmap]
rs17250577	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17252989	1.00[CHB][hapmap]
rs17324812	0.82[JPT][hapmap]
rs17330155	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1816448	1.00[CHB][hapmap]
rs1865286	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2570591	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4910690	0.82[JPT][hapmap]
rs4910693	1.00[CHB][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:8 , 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	chr11:4883400-4884400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr11:4883400-4886000	Enhancers	Fetal Heart	heart
6	chr11:4883600-4884600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:4884000-4885400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:4884200-4884400	Enhancers	HUES48 Cell Line	embryonic stem cell

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