Variant report

Variant	rs2376607
Chromosome Location	chr2:151011118-151011119
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	chr2:151010871..151013527-chr2:151340681..151342516,2	MCF-7	breast:
2	chr2:151008559..151012660-chr2:151342851..151344916,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10178850	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10180319	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10195216	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1157219	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11685263	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11687975	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693901	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618290	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs13405415	0.90[ASN][1000 genomes]
rs1374159	0.90[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28871317	0.87[ASN][1000 genomes]
rs4417736	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4567956	0.87[ASN][1000 genomes]
rs4667375	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667376	0.95[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4667377	0.90[ASN][1000 genomes]
rs4667379	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6708312	0.87[ASN][1000 genomes]
rs6719194	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6721152	0.87[ASN][1000 genomes]
rs6727767	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6727863	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6750791	0.87[ASN][1000 genomes]
rs7563665	0.87[ASN][1000 genomes]
rs7601392	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9287808	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs954077	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[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	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151002800-151013000	Weak transcription	Fetal Brain Male	brain
2	chr2:151007000-151013200	Weak transcription	Fetal Lung	lung
3	chr2:151010000-151011600	Enhancers	Liver	Liver
4	chr2:151010200-151011600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:151010400-151011600	Enhancers	Fetal Intestine Large	intestine
6	chr2:151010400-151011600	Enhancers	Fetal Intestine Small	intestine
7	chr2:151010400-151011800	Enhancers	A549	lung
8	chr2:151010800-151011200	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:151010800-151011600	Enhancers	Gastric	stomach
10	chr2:151011000-151013400	Weak transcription	Stomach Mucosa	stomach
11	chr2:151011000-151019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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