Variant report

Variant	rs4851315
Chromosome Location	chr2:101046028-101046029
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101033457..101036653-chr2:101042804..101046394,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11674569	0.85[JPT][hapmap]
rs11678148	0.86[JPT][hapmap]
rs11682748	0.85[JPT][hapmap]
rs11684004	0.86[JPT][hapmap]
rs11685250	0.86[JPT][hapmap]
rs11686880	0.85[JPT][hapmap]
rs11693424	0.81[JPT][hapmap]
rs12373827	0.80[JPT][hapmap]
rs1530028	0.85[JPT][hapmap]
rs1530030	0.85[JPT][hapmap]
rs2164847	0.85[JPT][hapmap]
rs2241809	0.86[JPT][hapmap]
rs2241810	0.85[JPT][hapmap]
rs2309798	0.85[JPT][hapmap]
rs3828193	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4149505	0.87[ASN][1000 genomes]
rs4149507	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4149510	0.85[JPT][hapmap]
rs4149512	0.85[JPT][hapmap]
rs4149513	0.85[JPT][hapmap]
rs4149518	0.85[JPT][hapmap]
rs4851292	0.81[JPT][hapmap]
rs4851300	0.83[EUR][1000 genomes]
rs7425449	0.85[JPT][hapmap]
rs7425797	0.86[JPT][hapmap]
rs7597615	0.86[JPT][hapmap]
rs920269	0.81[JPT][hapmap]
rs9646954	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1011990	chr2:101039956-101105648	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv961461	chr2:101043891-101051025	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101046000-101046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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