Variant report

Variant	rs13011751
Chromosome Location	chr2:181985765-181985766
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	TCF7L2	chr2:181985545-181985785	HepG2	liver:	n/a	n/a
2	GATA3	chr2:181985273-181985865	SK-N-SH	brain:	n/a	chr2:181985519-181985535 chr2:181985516-181985537 chr2:181985524-181985541 chr2:181985523-181985532

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181984288..181986201-chr2:181987328..181989334,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234663	TF binding region
ENSG00000234663	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11688120	0.84[EUR][1000 genomes]
rs11891215	0.99[ASN][1000 genomes]
rs11893772	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13011738	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13012524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13020845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13026070	0.88[EUR][1000 genomes]
rs13031518	0.88[EUR][1000 genomes]
rs34504038	0.88[EUR][1000 genomes]
rs34601234	0.99[ASN][1000 genomes]
rs34825850	0.84[EUR][1000 genomes]
rs35049898	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35076700	0.84[EUR][1000 genomes]
rs35482602	0.83[EUR][1000 genomes]
rs35725888	0.84[EUR][1000 genomes]
rs55664819	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62178846	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6433892	0.93[ASN][1000 genomes]
rs6706397	0.90[ASN][1000 genomes]
rs6706696	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6710650	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6711938	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72887083	0.84[EUR][1000 genomes]
rs7566146	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7566256	0.94[ASN][1000 genomes]
rs7566434	0.99[ASN][1000 genomes]
rs7569991	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7580796	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7592486	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181981400-181988600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:181983600-181988400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:181984200-181986000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:181984800-181988200	Enhancers	Primary T cells from cord blood	blood
5	chr2:181985000-181985800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr2:181985000-181988400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:181985000-181988800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:181985000-181990200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:181985200-181985800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:181985200-181985800	Enhancers	NH-A	brain
11	chr2:181985200-181987000	Enhancers	HSMMtube	muscle
12	chr2:181985200-181987800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:181985200-181988000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:181985400-181985800	Enhancers	HMEC	breast
15	chr2:181985400-181986000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:181985400-181986400	Enhancers	HSMM	muscle
17	chr2:181985400-181986800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:181985600-181986600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:181985600-181988400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links