Variant report

Variant	rs4128539
Chromosome Location	chr2:189974958-189974959
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10166301	1.00[CEU][hapmap]
rs12621913	1.00[CHB][hapmap]
rs2229495	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2882732	0.88[CHB][hapmap]
rs3923384	1.00[CEU][hapmap]
rs4666770	0.83[MEX][hapmap]
rs4666772	0.83[EUR][1000 genomes]
rs4667262	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6434312	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs6434320	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7420715	0.83[MEX][hapmap]

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	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
2	nsv3074	chr2:189931263-189976124	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189922800-189980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:189933000-189980200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:189941200-189975000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:189947600-189980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:189948200-189980600	Weak transcription	Placenta	Placenta
6	chr2:189950800-189977800	Weak transcription	Fetal Intestine Large	intestine
7	chr2:189954800-189980400	Weak transcription	Ovary	ovary
8	chr2:189958200-189981000	Weak transcription	Fetal Stomach	stomach
9	chr2:189962400-189995200	Weak transcription	Aorta	Aorta
10	chr2:189962600-189978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:189962600-189980600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:189968600-189977800	Weak transcription	HSMMtube	muscle
13	chr2:189968600-190012000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:189969000-189980000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:189971000-189978200	Strong transcription	HSMM	muscle
16	chr2:189971400-189976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:189971600-189977800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:189972200-189975400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:189972600-189975600	Strong transcription	NH-A	brain
20	chr2:189972600-189975600	Strong transcription	Osteobl	bone
21	chr2:189973000-189975600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr2:189973000-189980200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:189973400-189975200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:189973600-189975000	Strong transcription	Adipose Nuclei	Adipose
25	chr2:189973800-189975200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:189973800-189975200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:189973800-189975600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:189974400-189975400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:189974400-189975600	Enhancers	HepG2	liver
30	chr2:189974400-189976400	Enhancers	Liver	Liver
31	chr2:189974600-189975200	Genic enhancers	NHDF-Ad	bronchial
32	chr2:189974600-189975400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:189974600-189975600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:189974600-189980200	Weak transcription	Fetal Lung	lung
35	chr2:189974800-189975000	Enhancers	Fetal Intestine Small	intestine
36	chr2:189974800-189975200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:189974800-189975200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:189974800-189975200	Enhancers	Brain Substantia Nigra	brain
39	chr2:189974800-189975200	Enhancers	Pancreas	Pancrea
40	chr2:189974800-189975200	Genic enhancers	NHLF	lung
41	chr2:189974800-189975400	Transcr. at gene 5' and 3'	A549	lung
42	chr2:189974800-189975400	Strong transcription	HUVEC	blood vessel
43	chr2:189974800-190007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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