Variant report

Variant	rs11576197
Chromosome Location	chr1:192670237-192670238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192665447..192667038-chr1:192670205..192672534,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10754022	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10754023	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10801140	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10921229	0.81[CEU][hapmap]
rs10921232	0.81[ASN][1000 genomes]
rs10921233	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10921234	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10921236	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10921237	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10921238	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10921239	0.84[EUR][1000 genomes]
rs12037932	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12042114	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12118386	0.85[CEU][hapmap];0.89[GIH][hapmap];0.84[TSI][hapmap]
rs12403636	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1933705	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1933706	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1933712	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1933713	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1933714	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1933715	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2104248	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2146607	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2181445	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2208960	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2296020	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs2296021	0.84[GIH][hapmap]
rs2369892	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6695451	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6699054	0.91[EUR][1000 genomes]
rs6702192	0.87[EUR][1000 genomes]
rs7540755	0.88[EUR][1000 genomes]
rs7549322	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9287126	0.84[GIH][hapmap]
rs961480	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11576197	RGS21	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192667600-192673000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:192668400-192670800	Weak transcription	Placenta	Placenta
3	chr1:192669000-192671400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:192669000-192672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:192669000-192672000	Enhancers	Hela-S3	cervix
6	chr1:192669000-192673200	Enhancers	NHLF	lung
7	chr1:192669200-192672400	Enhancers	Fetal Intestine Large	intestine
8	chr1:192669200-192672400	Enhancers	Osteobl	bone
9	chr1:192669200-192672800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:192669400-192670600	Enhancers	HSMM	muscle
11	chr1:192669400-192671800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:192669400-192671800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:192669400-192671800	Enhancers	NHDF-Ad	bronchial
14	chr1:192669400-192672200	Enhancers	HUVEC	blood vessel
15	chr1:192669600-192670400	Flanking Active TSS	A549	lung
16	chr1:192669600-192670600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:192669600-192671200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:192669600-192671400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:192669600-192671400	Enhancers	Fetal Heart	heart
20	chr1:192669600-192671400	Enhancers	Fetal Intestine Small	intestine
21	chr1:192669600-192671600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr1:192669600-192671600	Enhancers	Rectal Smooth Muscle	rectum
23	chr1:192669600-192671600	Enhancers	Stomach Mucosa	stomach
24	chr1:192669600-192671800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:192669600-192671800	Enhancers	HSMMtube	muscle
26	chr1:192669600-192672000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:192669600-192672200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:192669600-192673200	Enhancers	HMEC	breast
29	chr1:192669600-192674200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:192669800-192670400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:192669800-192671400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:192670000-192670400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:192670000-192670400	Enhancers	Fetal Kidney	kidney
34	chr1:192670000-192670400	Flanking Active TSS	NHEK	skin
35	chr1:192670000-192671600	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:192670000-192672200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:192670200-192670600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr1:192670200-192671200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:192670200-192671200	Weak transcription	Fetal Lung	lung
40	chr1:192670200-192671800	Enhancers	Liver	Liver
41	chr1:192670200-192672600	Enhancers	NH-A	brain
42	chr1:192670200-192676200	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links