Variant report

Variant	rs7586
Chromosome Location	chr2:189898498-189898499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10931392	0.81[AFR][1000 genomes]
rs12886	1.00[ASN][1000 genomes]
rs13383261	0.82[ASW][hapmap]
rs55749146	1.00[ASN][1000 genomes]
rs55881040	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339059	1.00[ASN][1000 genomes]
rs57547130	0.82[AFR][1000 genomes]
rs59291399	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59397955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59631824	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6414123	0.83[ASN][1000 genomes]
rs6761847	0.83[ASN][1000 genomes]
rs72902398	0.81[AFR][1000 genomes]
rs72904412	0.81[AFR][1000 genomes]
rs72904429	0.81[AFR][1000 genomes]
rs73978837	1.00[ASN][1000 genomes]
rs73981481	1.00[ASN][1000 genomes]
rs73981485	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981487	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981488	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981489	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7419288	1.00[ASW][hapmap];0.89[LWK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs7419916	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424585	0.81[AFR][1000 genomes]
rs7582435	0.83[ASN][1000 genomes]
rs7599216	0.83[ASN][1000 genomes]
rs7606355	0.83[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189885200-189898800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:189888000-189902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:189888000-189917400	Weak transcription	Ovary	ovary
5	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
6	chr2:189890400-189898600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:189890400-189898800	Weak transcription	Aorta	Aorta
8	chr2:189890400-189899400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:189890400-189902800	Weak transcription	Fetal Stomach	stomach
10	chr2:189891600-189913600	Weak transcription	Fetal Kidney	kidney
11	chr2:189892000-189904000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:189893600-189916200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:189894000-189898600	Weak transcription	Liver	Liver
15	chr2:189894000-189913800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:189894600-189903800	Weak transcription	Placenta	Placenta
17	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
18	chr2:189895000-189902000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:189895000-189902000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr2:189895000-189902200	Strong transcription	Osteobl	bone
21	chr2:189895200-189899800	Strong transcription	A549	lung
22	chr2:189895200-189900000	Strong transcription	Adipose Nuclei	Adipose
23	chr2:189895200-189900200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:189895200-189901600	Strong transcription	NHDF-Ad	bronchial
25	chr2:189895200-189902000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:189895200-189902000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:189895200-189902200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:189895200-189909000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:189895200-189940800	Strong transcription	HSMM	muscle
30	chr2:189895400-189902200	Strong transcription	NH-A	brain
31	chr2:189895600-189899800	Strong transcription	HSMMtube	muscle
32	chr2:189895600-189900000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr2:189895600-189900000	Strong transcription	NHLF	lung
34	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:189895800-189899200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:189895800-189899800	Strong transcription	Fetal Lung	lung
37	chr2:189895800-189903000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:189896000-189907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
40	chr2:189896400-189922600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:189896600-189910600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:189896800-189900000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:189896800-189932800	Weak transcription	Pancreas	Pancrea
44	chr2:189897000-189898600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:189897000-189899800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:189897000-189900000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:189897000-189900000	Strong transcription	HUVEC	blood vessel
48	chr2:189897000-189902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:189897000-189911000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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