Variant report

Variant	rs7591883
Chromosome Location	chr2:173374862-173374863
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10174809	0.81[ASN][1000 genomes]
rs10497385	0.82[EUR][1000 genomes]
rs1076595	0.84[ASN][1000 genomes]
rs12465295	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465442	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12467358	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469958	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12474168	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474995	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475916	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12476126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477247	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477594	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12478465	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619242	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622687	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383151	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402061	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344272	0.82[ASN][1000 genomes]
rs1574247	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860543	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178474	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293646	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293649	0.81[ASN][1000 genomes]
rs2357415	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34094408	0.94[ASN][1000 genomes]
rs3749148	0.81[ASN][1000 genomes]
rs3792257	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3792260	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281870	0.82[EUR][1000 genomes]
rs4308101	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619573	0.82[ASN][1000 genomes]
rs4972839	0.86[ASN][1000 genomes]
rs56084828	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57418091	0.86[EUR][1000 genomes]
rs57957394	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58016698	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58044442	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59020762	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59524026	0.85[ASN][1000 genomes]
rs59610589	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60275829	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60442917	0.85[ASN][1000 genomes]
rs60446415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61542159	0.87[EUR][1000 genomes]
rs6718477	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6755100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894386	0.86[ASN][1000 genomes]
rs7564591	0.82[ASN][1000 genomes]
rs7564654	0.82[ASN][1000 genomes]
rs7565216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582972	0.82[ASN][1000 genomes]
rs7609465	0.82[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
2	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:173356600-173375400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:173356800-173376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:173356800-173376200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:173357000-173376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:173357000-173376000	Weak transcription	Aorta	Aorta
8	chr2:173357200-173376600	Weak transcription	Right Ventricle	heart
9	chr2:173357600-173376200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:173358000-173376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:173361000-173375600	Weak transcription	Spleen	Spleen
12	chr2:173361200-173375200	Weak transcription	GM12878-XiMat	blood
13	chr2:173367400-173376000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:173369600-173375000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:173369600-173375400	Weak transcription	Left Ventricle	heart
16	chr2:173369600-173375600	Weak transcription	Liver	Liver
17	chr2:173369600-173376000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:173369600-173376000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:173369600-173376000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:173369600-173376000	Weak transcription	Esophagus	oesophagus
21	chr2:173369600-173376000	Weak transcription	HUVEC	blood vessel
22	chr2:173369800-173375600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:173369800-173375600	Weak transcription	Adipose Nuclei	Adipose
24	chr2:173369800-173376600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:173370000-173375000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:173370200-173375000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:173370200-173375400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:173370200-173375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:173370400-173375400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:173370400-173375600	Weak transcription	Brain Anterior Caudate	brain
31	chr2:173371400-173375800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:173372200-173375400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:173372200-173375600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:173372400-173377000	Weak transcription	Thymus	Thymus
35	chr2:173372600-173379600	Enhancers	Primary B cells from peripheral blood	blood
36	chr2:173373000-173375400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:173373200-173375200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:173373200-173375800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:173373200-173376200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:173373200-173376200	Weak transcription	NHEK	skin
41	chr2:173373200-173376400	Weak transcription	Fetal Thymus	thymus
42	chr2:173373400-173375000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr2:173373400-173375200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:173373400-173375800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:173373400-173375800	Weak transcription	Pancreas	Pancrea
46	chr2:173373400-173376000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:173373400-173376000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:173373400-173376400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:173373600-173375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:173373600-173375400	Weak transcription	Duodenum Mucosa	Duodenum

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