Variant report

Variant	rs6542918
Chromosome Location	chr2:100817917-100817918
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	chr2:100815576..100818856-chr2:100821193..100824175,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10170878	1.00[JPT][hapmap]
rs10173499	1.00[JPT][hapmap]
rs10865039	1.00[JPT][hapmap]
rs12463633	1.00[JPT][hapmap]
rs12472141	1.00[JPT][hapmap]
rs13397337	1.00[JPT][hapmap]
rs2309817	1.00[JPT][hapmap]
rs2309822	1.00[JPT][hapmap]
rs2309823	1.00[JPT][hapmap]
rs2309824	1.00[JPT][hapmap]
rs4851287	1.00[JPT][hapmap]
rs6542919	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542923	1.00[JPT][hapmap]
rs6542924	1.00[JPT][hapmap]
rs6724490	1.00[JPT][hapmap]
rs6727712	1.00[JPT][hapmap]
rs7559464	1.00[JPT][hapmap]
rs7562372	1.00[JPT][hapmap]
rs7582180	1.00[JPT][hapmap]
rs7588623	1.00[JPT][hapmap]

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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100814600-100818600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:100814800-100820200	Weak transcription	Fetal Brain Male	brain
3	chr2:100815000-100823600	Weak transcription	Fetal Heart	heart
4	chr2:100815200-100820400	Weak transcription	Fetal Brain Female	brain
5	chr2:100815600-100823800	Weak transcription	Left Ventricle	heart
6	chr2:100816600-100818600	Enhancers	HUVEC	blood vessel
7	chr2:100817600-100818000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:100817800-100818000	Enhancers	NHDF-Ad	bronchial
9	chr2:100817800-100818200	Enhancers	HMEC	breast
10	chr2:100817800-100818600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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