Variant report

Variant	rs62135620
Chromosome Location	chr2:37752388-37752389
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37750494..37753126-chr2:37755282..37758180,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10084269	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10165975	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10177794	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10177859	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10180573	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184286	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11124588	0.91[ASN][1000 genomes]
rs12151799	0.90[ASN][1000 genomes]
rs12472489	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407307	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274577	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4352210	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4387769	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4430920	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4461243	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4538180	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670726	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4670727	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62135619	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62135623	0.85[ASN][1000 genomes]
rs6544089	0.93[ASN][1000 genomes]
rs6544090	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705305	0.90[ASN][1000 genomes]
rs6715817	0.81[ASN][1000 genomes]
rs6759677	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7419452	0.84[ASN][1000 genomes]
rs7589042	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7593076	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309009	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309010	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37749200-37752800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:37749800-37752600	Enhancers	Fetal Brain Female	brain
3	chr2:37750000-37752800	Enhancers	Fetal Heart	heart
4	chr2:37750200-37752600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:37750200-37752800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:37750400-37752600	Enhancers	Fetal Muscle Leg	muscle
7	chr2:37750400-37752600	Enhancers	NHDF-Ad	bronchial
8	chr2:37750400-37752800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:37750400-37752800	Enhancers	Fetal Stomach	stomach
10	chr2:37750800-37752600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:37750800-37752600	Enhancers	Osteobl	bone
12	chr2:37751000-37752600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:37751200-37752600	Enhancers	Aorta	Aorta
14	chr2:37751200-37752600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr2:37751200-37752800	Enhancers	Psoas Muscle	Psoas
16	chr2:37751400-37752600	Enhancers	Right Ventricle	heart
17	chr2:37751400-37753600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:37751600-37752400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:37751600-37752400	Enhancers	Fetal Lung	lung
20	chr2:37751600-37758600	Weak transcription	HMEC	breast
21	chr2:37751600-37763000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:37751800-37752600	Enhancers	Colon Smooth Muscle	Colon
23	chr2:37751800-37752600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:37751800-37755600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:37751800-37757000	Weak transcription	NHLF	lung
26	chr2:37751800-37757200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:37752000-37752400	Weak transcription	Primary B cells from cord blood	blood
28	chr2:37752000-37752400	Weak transcription	Left Ventricle	heart
29	chr2:37752000-37753800	Weak transcription	Right Atrium	heart
30	chr2:37752200-37752400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr2:37752200-37752600	Weak transcription	Rectal Smooth Muscle	rectum

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