Variant report

Variant	rs11691794
Chromosome Location	chr2:113026386-113026387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113011034..113012645-chr2:113023900..113026719,2	MCF-7	breast:
2	chr2:113020796..113023411-chr2:113025323..113027811,3	MCF-7	breast:
3	chr2:113012358..113014403-chr2:113025508..113027956,2	MCF-7	breast:
4	chr2:113013051..113015199-chr2:113024386..113026807,2	K562	blood:
5	chr2:112990251..112993065-chr2:113025836..113028410,2	K562	blood:

Variant related genes	Relation type
ENSG00000144161	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10167090	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10169159	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10175234	0.90[ASN][1000 genomes]
rs10177573	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10183121	0.89[ASN][1000 genomes]
rs10203843	0.91[AFR][1000 genomes]
rs10205038	0.95[ASN][1000 genomes]
rs10864903	0.92[AFR][1000 genomes]
rs11123131	0.81[ASN][1000 genomes]
rs11123132	0.82[ASN][1000 genomes]
rs11123136	0.81[AFR][1000 genomes]
rs11674953	0.93[ASN][1000 genomes]
rs11688418	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689487	1.00[ASN][1000 genomes]
rs11691431	0.95[ASN][1000 genomes]
rs11896500	0.91[AFR][1000 genomes]
rs11903741	0.91[AFR][1000 genomes]
rs11904424	0.88[AFR][1000 genomes]
rs12464478	0.83[AFR][1000 genomes]
rs12711737	0.94[ASN][1000 genomes]
rs12711738	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13387611	0.81[AFR][1000 genomes]
rs13407329	0.81[ASN][1000 genomes]
rs34471791	0.81[AFR][1000 genomes]
rs34623958	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4258804	0.87[AFR][1000 genomes]
rs4332934	0.93[AFR][1000 genomes]
rs4392265	0.95[ASN][1000 genomes]
rs4399734	0.85[AFR][1000 genomes]
rs4430968	0.93[AFR][1000 genomes]
rs4446076	0.95[ASN][1000 genomes]
rs4450606	0.93[AFR][1000 genomes]
rs4450607	0.83[AFR][1000 genomes]
rs4456711	0.91[AFR][1000 genomes]
rs4507112	0.81[AFR][1000 genomes]
rs4522611	0.86[AFR][1000 genomes]
rs4525706	0.81[AFR][1000 genomes]
rs4539797	0.93[AFR][1000 genomes]
rs4622729	0.86[AFR][1000 genomes]
rs4849056	0.88[ASN][1000 genomes]
rs4849057	0.93[ASN][1000 genomes]
rs58337061	0.91[AFR][1000 genomes]
rs6542045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542048	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542050	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6542051	0.92[AFR][1000 genomes]
rs6706874	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6708164	0.86[AFR][1000 genomes]
rs6716010	0.93[ASN][1000 genomes]
rs6733138	0.81[AFR][1000 genomes]
rs6744364	0.81[AFR][1000 genomes]
rs6745942	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6751146	0.81[AFR][1000 genomes]
rs6758110	0.81[AFR][1000 genomes]
rs6761599	0.81[AFR][1000 genomes]
rs71414636	0.86[ASN][1000 genomes]
rs72831684	0.95[ASN][1000 genomes]
rs7557281	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7557862	0.81[AFR][1000 genomes]
rs7564052	0.88[AFR][1000 genomes]
rs7569894	0.86[AFR][1000 genomes]
rs7571435	0.93[ASN][1000 genomes]
rs7591439	0.81[AFR][1000 genomes]
rs7598168	0.83[AFR][1000 genomes]
rs7599041	0.81[AFR][1000 genomes]
rs7601888	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv874867	chr2:112930064-113038409	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv1805614	chr2:112949713-113048705	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv874868	chr2:113021811-113076095	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv874869	chr2:113021811-113089267	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv874870	chr2:113021811-113097699	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv874871	chr2:113021811-113217630	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113025200-113032600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:113026200-113026800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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