Variant report

Variant	rs1038572
Chromosome Location	chr2:62902019-62902020
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:62682086..62684850-chr2:62901715..62904268,2	K562	blood:
2	chr2:62732443..62734653-chr2:62900758..62903078,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186889	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10168771	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10177638	0.87[EUR][1000 genomes]
rs10181359	0.80[ASN][1000 genomes]
rs10208675	0.93[YRI][hapmap]
rs1038570	0.81[YRI][hapmap]
rs12328837	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1386399	0.92[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap]
rs1386400	0.87[YRI][hapmap]
rs1386401	0.85[CEU][hapmap]
rs1487074	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.92[EUR][1000 genomes]
rs1534418	0.92[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap]
rs1534419	0.92[CEU][hapmap]
rs1534420	0.92[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap]
rs1872789	0.92[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap]
rs1872790	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap];0.92[EUR][1000 genomes]
rs2204655	0.92[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2204656	0.87[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap]
rs2931488	0.88[YRI][hapmap]
rs360807	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs6545968	0.92[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs6545969	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs6705835	0.92[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap]
rs6727888	0.91[EUR][1000 genomes]
rs6757128	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs6760804	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62900400-62902200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:62900400-62903600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:62900600-62903000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:62900600-62906200	Weak transcription	Osteobl	bone
5	chr2:62900800-62903600	Weak transcription	NHDF-Ad	bronchial
6	chr2:62901000-62902200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:62901000-62903000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:62901200-62903400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:62901200-62904000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:62901200-62908200	Weak transcription	NHLF	lung
11	chr2:62901600-62902200	Enhancers	A549	lung
12	chr2:62902000-62902800	Enhancers	HepG2	liver
13	chr2:62902000-62903000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:62902000-62903000	Enhancers	HSMMtube	muscle

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