Variant report

Variant	rs12474600
Chromosome Location	chr2:179884886-179884887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179664498..179665287-chr2:179884587..179885536,2	MCF-7	breast:
2	chr2:179882961..179884886-chr2:179892703..179894826,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10497530	0.93[EUR][1000 genomes]
rs10497531	0.85[EUR][1000 genomes]
rs10497532	0.85[EUR][1000 genomes]
rs11883598	0.85[EUR][1000 genomes]
rs11883599	0.85[EUR][1000 genomes]
rs11883748	0.93[EUR][1000 genomes]
rs11885227	0.85[EUR][1000 genomes]
rs11885400	0.85[EUR][1000 genomes]
rs11885450	0.85[EUR][1000 genomes]
rs11886627	0.84[EUR][1000 genomes]
rs11887988	0.85[EUR][1000 genomes]
rs11890988	0.85[EUR][1000 genomes]
rs11891599	0.85[EUR][1000 genomes]
rs11891608	0.85[EUR][1000 genomes]
rs11891654	0.85[EUR][1000 genomes]
rs11892227	0.95[EUR][1000 genomes]
rs11893153	0.85[EUR][1000 genomes]
rs11893315	0.95[EUR][1000 genomes]
rs11895391	0.85[EUR][1000 genomes]
rs11896002	0.85[EUR][1000 genomes]
rs11896686	0.84[EUR][1000 genomes]
rs11897059	0.85[EUR][1000 genomes]
rs11899563	0.93[EUR][1000 genomes]
rs11901386	0.85[EUR][1000 genomes]
rs11901918	0.85[EUR][1000 genomes]
rs11902355	0.93[EUR][1000 genomes]
rs11903793	0.85[EUR][1000 genomes]
rs12467652	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16866624	0.85[EUR][1000 genomes]
rs17362972	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363006	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17363057	0.85[EUR][1000 genomes]
rs17454087	0.82[CEU][hapmap]
rs17454199	0.82[CEU][hapmap]
rs1875779	0.93[EUR][1000 genomes]
rs1875782	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35465824	0.82[EUR][1000 genomes]
rs35888089	0.85[EUR][1000 genomes]
rs35979436	0.83[EUR][1000 genomes]
rs4435492	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893864	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4991006	0.93[EUR][1000 genomes]
rs61397643	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62175366	0.95[EUR][1000 genomes]
rs62175367	0.95[EUR][1000 genomes]
rs62175401	0.88[EUR][1000 genomes]
rs62175402	0.90[EUR][1000 genomes]
rs62175403	0.90[EUR][1000 genomes]
rs62175411	0.85[EUR][1000 genomes]
rs62175420	0.85[EUR][1000 genomes]
rs62175421	0.85[EUR][1000 genomes]
rs62175422	0.85[EUR][1000 genomes]
rs62175444	0.85[EUR][1000 genomes]
rs62175990	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175993	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175994	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175995	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176021	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176023	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62176024	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62176026	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62176027	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62176028	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62176030	0.85[ASN][1000 genomes]
rs6433747	0.85[EUR][1000 genomes]
rs6433748	0.85[EUR][1000 genomes]
rs6433749	0.85[EUR][1000 genomes]
rs6433750	0.85[EUR][1000 genomes]
rs6433751	0.85[EUR][1000 genomes]
rs6433752	0.85[EUR][1000 genomes]
rs6709090	0.93[EUR][1000 genomes]
rs6716599	0.95[EUR][1000 genomes]
rs6716713	0.95[EUR][1000 genomes]
rs6716728	0.95[EUR][1000 genomes]
rs6731564	0.86[EUR][1000 genomes]
rs6731566	0.81[EUR][1000 genomes]
rs6734597	0.93[EUR][1000 genomes]
rs7574853	0.85[EUR][1000 genomes]
rs7575047	0.85[EUR][1000 genomes]
rs7578521	0.85[EUR][1000 genomes]
rs7578961	0.85[EUR][1000 genomes]
rs7579263	0.85[EUR][1000 genomes]
rs7582862	0.85[EUR][1000 genomes]
rs7588765	0.85[EUR][1000 genomes]
rs7596842	0.85[EUR][1000 genomes]
rs7601179	0.85[EUR][1000 genomes]
rs7609150	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875456	chr2:179775893-179896787	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875459	chr2:179839833-179896787	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv875460	chr2:179843612-179896787	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv875461	chr2:179843612-179900720	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv875462	chr2:179843612-179901443	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv875463	chr2:179843612-179909467	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv875466	chr2:179856777-179909467	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179864000-179885000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:179881800-179887200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:179883600-179889000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:179884000-179889000	Weak transcription	Primary T cells from cord blood	blood
5	chr2:179884600-179885200	Enhancers	Pancreas	Pancrea
6	chr2:179884600-179890400	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:179884800-179886800	Enhancers	Fetal Heart	heart

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