Variant report

Variant	rs13035981
Chromosome Location	chr2:144658564-144658565
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	chr2:144657493..144659375-chr2:144660601..144662618,2	K562	blood:
2	chr2:144652094..144654965-chr2:144657461..144660381,2	K562	blood:

Variant related genes	Relation type
ENSG00000200287	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10928201	0.87[ASN][1000 genomes]
rs11888667	0.91[ASN][1000 genomes]
rs12995797	0.87[ASN][1000 genomes]
rs12998885	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13017800	0.88[ASN][1000 genomes]
rs13029182	0.88[ASN][1000 genomes]
rs16823284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1900590	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36045907	0.88[ASN][1000 genomes]
rs61567202	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6430047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708534	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6735072	0.80[CHB][hapmap]
rs6751756	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs787163	0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs9636220	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr2:144654000-144661200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:144657000-144658600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr2:144657000-144659000	Enhancers	Hela-S3	cervix
4	chr2:144657200-144659000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:144657600-144661000	Weak transcription	Ovary	ovary
6	chr2:144657800-144659000	Enhancers	HUVEC	blood vessel
7	chr2:144658200-144658800	Enhancers	NHEK	skin
8	chr2:144658200-144659000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:144658200-144659000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:144658200-144659000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:144658200-144659000	Enhancers	HMEC	breast
12	chr2:144658400-144658600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:144658400-144658800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:144658400-144658800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:144658400-144658800	Enhancers	Osteobl	bone
16	chr2:144658400-144659000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:144658400-144659000	Enhancers	NH-A	brain
18	chr2:144658400-144659600	Enhancers	HSMM	muscle
19	chr2:144658400-144659800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:144658400-144659800	Enhancers	NHDF-Ad	bronchial

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