Variant report

Variant	rs2280179
Chromosome Location	chr8:52920335-52920336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:52846296..52848839-chr8:52918940..52920653,2	MCF-7	breast:
2	chr20:50385217..50387234-chr8:52917749..52920748,3	MCF-7	breast:
3	chr8:52811463..52813634-chr8:52919548..52922718,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168300	Chromatin interaction
ENSG00000228801	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12541693	0.81[JPT][hapmap]
rs12546159	0.81[JPT][hapmap]
rs1399857	0.87[ASN][1000 genomes]
rs1399858	0.87[ASN][1000 genomes]
rs1399859	0.87[ASN][1000 genomes]
rs1399860	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2017534	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2554461	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2554462	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2554465	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2677208	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2677209	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs268924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs268925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6473673	0.87[ASN][1000 genomes]
rs6473675	0.82[ASW][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.87[ASN][1000 genomes]
rs6473676	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.94[YRI][hapmap];0.87[ASN][1000 genomes]
rs6473677	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6473678	0.81[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6982212	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7005809	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs9298469	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52913800-52920400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:52913800-52920600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:52914800-52920400	Weak transcription	GM12878-XiMat	blood
4	chr8:52916800-52920800	Weak transcription	Pancreas	Pancrea
5	chr8:52917800-52921000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:52919000-52920600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:52919000-52920800	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:52919000-52921000	Weak transcription	Fetal Lung	lung
9	chr8:52919200-52920400	Weak transcription	Thymus	Thymus
10	chr8:52919400-52920600	Weak transcription	Gastric	stomach
11	chr8:52919800-52921600	Enhancers	Fetal Thymus	thymus
12	chr8:52919800-52921600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:52920000-52921200	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:52920000-52921200	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:52920000-52921200	Enhancers	HUVEC	blood vessel
16	chr8:52920000-52921600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:52920200-52921200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:52920200-52921200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:52920200-52921600	Enhancers	Dnd41	blood

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