Variant report

Variant	rs55965240
Chromosome Location	chr2:189883748-189883749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10194770	0.88[ASN][1000 genomes]
rs10194927	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10195023	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10197596	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10200215	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207407	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10207530	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10208525	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210319	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1131518	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392501	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13393368	0.93[ASN][1000 genomes]
rs13421883	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429993	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432580	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28384143	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55974662	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56074008	0.87[EUR][1000 genomes]
rs56954312	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56970084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59777852	0.87[EUR][1000 genomes]
rs72902328	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72902330	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904403	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72904488	0.87[EUR][1000 genomes]
rs72906383	0.86[EUR][1000 genomes]
rs72915321	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915330	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915335	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355694	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355697	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189871600-189884600	Weak transcription	Fetal Kidney	kidney
2	chr2:189873200-189885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:189876000-189884400	Weak transcription	HSMMtube	muscle
4	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:189877400-189886200	Weak transcription	Adipose Nuclei	Adipose
6	chr2:189877400-189897400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:189877800-189885200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:189878000-189886400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:189879400-189883800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:189879400-189884000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:189879400-189885200	Weak transcription	Pancreas	Pancrea
12	chr2:189879400-189886200	Weak transcription	Aorta	Aorta
13	chr2:189880200-189895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:189880400-189884000	Weak transcription	Ovary	ovary
15	chr2:189880400-189884200	Weak transcription	Fetal Lung	lung
16	chr2:189880800-189885000	Weak transcription	Fetal Stomach	stomach
17	chr2:189881000-189884400	Enhancers	Osteobl	bone
18	chr2:189881200-189895000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:189882600-189885600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:189882800-189884600	Enhancers	NHDF-Ad	bronchial
21	chr2:189882800-189885600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:189882800-189886600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:189883400-189884200	Enhancers	NH-A	brain
24	chr2:189883400-189885200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:189883600-189884600	Enhancers	HSMM	muscle
26	chr2:189883600-189885000	Enhancers	NHLF	lung
27	chr2:189883600-189887600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links