Variant report

Variant	rs12165471
Chromosome Location	chr22:31472653-31472654
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10427701	0.97[ASN][1000 genomes]
rs10854603	0.97[ASN][1000 genomes]
rs11705177	0.97[ASN][1000 genomes]
rs11705250	0.97[ASN][1000 genomes]
rs11705313	0.97[ASN][1000 genomes]
rs11705396	0.86[ASN][1000 genomes]
rs12157450	0.97[ASN][1000 genomes]
rs12157641	0.88[EUR][1000 genomes]
rs12170984	0.97[ASN][1000 genomes]
rs12330058	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053618	0.89[EUR][1000 genomes]
rs13057068	0.97[ASN][1000 genomes]
rs2006301	1.00[ASN][1000 genomes]
rs2074737	0.81[EUR][1000 genomes]
rs35060453	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753456	0.88[EUR][1000 genomes]
rs5994365	0.90[ASN][1000 genomes]
rs5994368	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994370	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997863	0.97[ASN][1000 genomes]
rs5997864	0.97[ASN][1000 genomes]
rs5997866	0.97[ASN][1000 genomes]
rs5997871	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997872	0.85[ASN][1000 genomes]
rs7284593	0.97[ASN][1000 genomes]
rs7291565	0.95[ASN][1000 genomes]
rs7292038	0.97[ASN][1000 genomes]
rs7292982	0.84[ASN][1000 genomes]
rs9619166	0.97[ASN][1000 genomes]
rs9619167	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9621175	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv20214	chr22:31461316-31474644	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1000178	chr22:31461678-31474550	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:31469800-31476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:31469800-31476400	Weak transcription	HUVEC	blood vessel
4	chr22:31470200-31475000	Weak transcription	Spleen	Spleen
5	chr22:31471200-31473000	Enhancers	Fetal Stomach	stomach
6	chr22:31471200-31473000	Enhancers	Stomach Smooth Muscle	stomach
7	chr22:31471400-31476600	Weak transcription	Left Ventricle	heart
8	chr22:31472000-31476400	Weak transcription	HSMMtube	muscle
9	chr22:31472200-31474200	Weak transcription	Osteobl	bone
10	chr22:31472200-31475400	Weak transcription	Lung	lung
11	chr22:31472200-31476200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:31472200-31476400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:31472400-31473800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:31472400-31473800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:31472400-31473800	Weak transcription	Esophagus	oesophagus
16	chr22:31472400-31473800	Weak transcription	Placenta	Placenta
17	chr22:31472400-31474200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr22:31472400-31474200	Weak transcription	HSMM	muscle
19	chr22:31472400-31474200	Weak transcription	NHEK	skin
20	chr22:31472400-31474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:31472400-31474400	Weak transcription	Stomach Mucosa	stomach
22	chr22:31472400-31475000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:31472400-31475000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr22:31472400-31475200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:31472400-31476400	Weak transcription	Ovary	ovary
26	chr22:31472400-31476600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:31472400-31476600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:31472400-31476600	Weak transcription	Psoas Muscle	Psoas
29	chr22:31472600-31473600	Weak transcription	Fetal Intestine Large	intestine
30	chr22:31472600-31473800	Weak transcription	Fetal Intestine Small	intestine
31	chr22:31472600-31474200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:31472600-31474200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:31472600-31474200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:31472600-31474200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr22:31472600-31474200	Weak transcription	Fetal Muscle Leg	muscle
36	chr22:31472600-31474200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr22:31472600-31475000	Weak transcription	Colonic Mucosa	Colon
38	chr22:31472600-31476200	Weak transcription	Fetal Lung	lung
39	chr22:31472600-31476400	Weak transcription	Adipose Nuclei	Adipose
40	chr22:31472600-31476400	Weak transcription	Right Ventricle	heart
41	chr22:31472600-31476400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr22:31472600-31476400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr22:31472600-31476400	Weak transcription	NHDF-Ad	bronchial
44	chr22:31472600-31476600	Weak transcription	Right Atrium	heart
45	chr22:31472600-31476600	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links