Variant report

Variant	rs10183522
Chromosome Location	chr2:182219634-182219635
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	chr2:182214460..182217002-chr2:182217574..182220535,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10178445	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10497578	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12613489	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12623733	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16823661	0.83[EUR][1000 genomes]
rs16867398	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16867399	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16867403	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16867404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16867407	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16867409	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16867411	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16867412	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16867414	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16867415	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16867417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867418	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867421	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867422	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867424	0.84[ASN][1000 genomes]
rs2219754	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4627521	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56144959	0.87[ASN][1000 genomes]
rs57112009	0.84[ASN][1000 genomes]
rs59403061	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60453369	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60481141	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61097715	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7585586	0.82[AFR][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182208000-182226400	Weak transcription	Fetal Thymus	thymus
2	chr2:182216800-182227200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:182217400-182222400	Weak transcription	Dnd41	blood
4	chr2:182217600-182227800	Weak transcription	Primary B cells from cord blood	blood
5	chr2:182217800-182222800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:182219000-182219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:182219000-182222000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:182219000-182222000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:182219200-182219800	Enhancers	HMEC	breast
10	chr2:182219200-182219800	Enhancers	NHDF-Ad	bronchial
11	chr2:182219200-182220000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:182219200-182220000	Enhancers	HSMM	muscle
13	chr2:182219200-182220000	Enhancers	NH-A	brain
14	chr2:182219200-182220200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:182219200-182221200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:182219200-182221400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:182219200-182221800	Enhancers	HSMMtube	muscle
18	chr2:182219400-182219800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:182219600-182222600	Weak transcription	GM12878-XiMat	blood
20	chr2:182219600-182227200	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links