Variant report

Variant	rs10495776
Chromosome Location	chr2:30767529-30767530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30767176..30771921-chr2:30882806..30885621,6	K562	blood:
2	chr2:30767176..30771418-chr2:30882472..30885159,3	K562	blood:
3	chr2:30759172..30762525-chr2:30767223..30769886,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10197664	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs10205934	0.91[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs1096110	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes]
rs11127276	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs11676852	0.95[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes]
rs11678346	0.82[EUR][1000 genomes]
rs1252644	0.84[EUR][1000 genomes]
rs12612080	0.82[EUR][1000 genomes]
rs12616814	0.92[JPT][hapmap]
rs12621663	0.91[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap]
rs1464817	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs2248777	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2363073	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap]
rs2363294	0.86[YRI][hapmap]
rs2593428	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2593432	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2593438	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602774	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602805	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2609922	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6712951	0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs711242	0.83[EUR][1000 genomes]
rs71412838	0.82[EUR][1000 genomes]
rs736256	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7562252	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7602714	0.91[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs829626	0.91[CEU][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs829628	0.91[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes]
rs864910	0.81[JPT][hapmap]
rs9789517	0.91[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10495776	OR2AG1	trans	parietal	SCAN
rs10495776	GCKR	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30743000-30768000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:30753600-30770000	Weak transcription	Small Intestine	intestine
4	chr2:30753800-30768600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
8	chr2:30758800-30784400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:30758800-30785000	Weak transcription	Left Ventricle	heart
10	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:30759000-30785200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:30759200-30767600	Weak transcription	Fetal Kidney	kidney
13	chr2:30759200-30805600	Weak transcription	K562	blood
14	chr2:30759400-30769600	Weak transcription	HepG2	liver
15	chr2:30759400-30785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:30759400-30785000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:30759400-30785000	Weak transcription	Dnd41	blood
18	chr2:30759600-30771200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:30759600-30786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:30761200-30767600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:30763000-30768000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:30763800-30771800	Weak transcription	Fetal Intestine Small	intestine
23	chr2:30764000-30792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:30764200-30768800	Weak transcription	Fetal Thymus	thymus
25	chr2:30764400-30784200	Weak transcription	Primary B cells from cord blood	blood
26	chr2:30764800-30767800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:30764800-30769200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:30765000-30773200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:30765000-30793600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:30765200-30768600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:30765400-30769200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:30765400-30770800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:30765600-30773800	Weak transcription	Primary T cells from cord blood	blood
34	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:30767000-30771400	Enhancers	Fetal Heart	heart
36	chr2:30767400-30767600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:30767400-30767600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:30767400-30767600	Enhancers	Fetal Intestine Large	intestine
39	chr2:30767400-30770000	Enhancers	Fetal Lung	lung

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