Variant report

Variant	rs2640241
Chromosome Location	chr8:62410115-62410116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62408687..62410357-chr8:62411141..62412784,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10086389	0.81[CHB][hapmap]
rs10101416	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10106575	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10106775	0.84[ASN][1000 genomes]
rs10109999	0.84[ASN][1000 genomes]
rs10111010	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10113272	0.84[ASN][1000 genomes]
rs10481233	0.83[CHB][hapmap]
rs10504326	0.82[CHB][hapmap]
rs11774171	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs11984530	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11993625	0.83[AFR][1000 genomes]
rs13253460	0.91[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs13272256	0.83[CHB][hapmap]
rs1532255	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1546111	0.82[CHB][hapmap]
rs16918881	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[EUR][1000 genomes]
rs16927359	0.83[CHB][hapmap]
rs16927435	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs16927470	0.91[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs16927479	0.84[ASN][1000 genomes]
rs1968990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016441	0.83[CHB][hapmap]
rs2087900	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2087901	0.82[CHB][hapmap]
rs2101707	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2452688	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2610522	0.89[ASN][1000 genomes]
rs2640231	0.85[AFR][1000 genomes]
rs2640235	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2640239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34344679	0.84[ASN][1000 genomes]
rs3920015	0.83[CHB][hapmap]
rs3922836	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4416815	0.91[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4510853	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4537294	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4737587	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4738897	0.82[CHB][hapmap]
rs4738898	0.82[CHB][hapmap]
rs4738899	0.82[CHB][hapmap]
rs4738902	0.82[CHB][hapmap]
rs61397046	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67210846	0.84[ASN][1000 genomes]
rs6992187	0.84[ASN][1000 genomes]
rs7005455	0.92[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7011243	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7013189	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7460622	0.81[EUR][1000 genomes]
rs7825172	0.85[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7839203	0.81[CHB][hapmap]
rs903027	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs976775	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv521898	chr8:62364663-62419120	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62400600-62412000	Weak transcription	A549	lung
2	chr8:62406200-62415400	Weak transcription	Esophagus	oesophagus
3	chr8:62408600-62427800	Weak transcription	Fetal Intestine Large	intestine
4	chr8:62408600-62430800	Weak transcription	Fetal Brain Male	brain
5	chr8:62408800-62412600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:62408800-62412600	Weak transcription	Fetal Brain Female	brain
7	chr8:62408800-62427600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:62408800-62432000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:62409000-62415600	Weak transcription	Aorta	Aorta
10	chr8:62409000-62427800	Weak transcription	HMEC	breast
11	chr8:62409200-62415400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:62409200-62426000	Weak transcription	Fetal Intestine Small	intestine
13	chr8:62409400-62412600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:62409400-62421200	Weak transcription	Brain Anterior Caudate	brain
15	chr8:62409600-62412600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:62409800-62412000	Weak transcription	NHDF-Ad	bronchial

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