Variant report

Variant	rs4670285
Chromosome Location	chr2:39758174-39758175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39750470..39752970-chr2:39756347..39759099,2	K562	blood:
2	chr2:39662377..39665156-chr2:39756764..39759540,3	MCF-7	breast:
3	chr2:39757987..39759726-chr2:39760387..39763403,3	K562	blood:
4	chr2:39750470..39752970-chr2:39756347..39759099,3	K562	blood:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction
ENSG00000011566	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10191970	0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11896239	0.84[ASN][1000 genomes]
rs13027520	0.88[ASN][1000 genomes]
rs13391377	0.88[ASN][1000 genomes]
rs17023874	0.91[ASN][1000 genomes]
rs17023923	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2888602	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35377016	0.88[ASN][1000 genomes]
rs4670282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4670284	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4670943	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6740898	0.82[ASN][1000 genomes]
rs72803112	0.84[ASN][1000 genomes]
rs734663	0.88[JPT][hapmap]
rs7588713	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7594624	0.88[ASN][1000 genomes]
rs7594967	0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39749400-39761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:39750000-39761000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:39750800-39760200	Weak transcription	Gastric	stomach
4	chr2:39751200-39760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:39751400-39760200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:39752600-39760400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:39752600-39760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:39753200-39760200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:39753400-39761000	Weak transcription	HSMMtube	muscle
10	chr2:39753400-39768400	Weak transcription	Right Ventricle	heart
11	chr2:39753400-39768600	Weak transcription	Right Atrium	heart
12	chr2:39753600-39758200	Weak transcription	Lung	lung
13	chr2:39753600-39767000	Weak transcription	Psoas Muscle	Psoas
14	chr2:39756600-39758400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:39756600-39758600	Enhancers	NHDF-Ad	bronchial
16	chr2:39756800-39758600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:39757000-39758200	Weak transcription	Left Ventricle	heart
18	chr2:39757000-39758400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:39757000-39758400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:39757000-39758400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:39757000-39758400	Enhancers	HSMM	muscle
22	chr2:39757000-39758600	Enhancers	HUVEC	blood vessel
23	chr2:39757000-39758600	Enhancers	Osteobl	bone
24	chr2:39757200-39758200	Enhancers	Fetal Kidney	kidney
25	chr2:39757200-39758400	Enhancers	Fetal Heart	heart
26	chr2:39757200-39758600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:39757200-39758600	Enhancers	NHLF	lung
28	chr2:39757200-39761800	Weak transcription	Aorta	Aorta
29	chr2:39757400-39758400	Enhancers	Adipose Nuclei	Adipose
30	chr2:39757400-39758600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:39757600-39758200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:39757600-39758400	Genic enhancers	HepG2	liver
33	chr2:39757600-39758600	Enhancers	Primary B cells from peripheral blood	blood
34	chr2:39757600-39758600	Enhancers	GM12878-XiMat	blood
35	chr2:39757800-39758400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:39757800-39761400	Weak transcription	NH-A	brain
37	chr2:39758000-39758400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:39758000-39758600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:39758000-39758600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:39758000-39758600	Enhancers	Fetal Muscle Leg	muscle
41	chr2:39758000-39759200	Enhancers	Placenta	Placenta
42	chr2:39758000-39760800	Weak transcription	NHEK	skin
43	chr2:39758000-39761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:39758000-39761000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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