Variant report

Variant	rs2349972
Chromosome Location	chr12:29326500-29326501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1021574	0.86[AFR][1000 genomes]
rs10771495	0.86[AFR][1000 genomes]
rs1496215	0.93[AFR][1000 genomes]
rs4931159	0.86[AFR][1000 genomes]
rs6487780	0.93[AFR][1000 genomes]
rs71453729	1.00[ASN][1000 genomes]
rs958477	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29317600-29340800	Weak transcription	Left Ventricle	heart
2	chr12:29317800-29326800	Weak transcription	Primary T cells from cord blood	blood
3	chr12:29318400-29329600	Weak transcription	NHLF	lung
4	chr12:29321800-29327000	Weak transcription	Small Intestine	intestine
5	chr12:29322400-29335600	Weak transcription	Gastric	stomach
6	chr12:29323000-29329600	Weak transcription	Adipose Nuclei	Adipose
7	chr12:29323000-29332400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:29323400-29327000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:29324000-29329600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:29325000-29328000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:29325000-29329200	Weak transcription	HUVEC	blood vessel
12	chr12:29325200-29326800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:29325200-29326800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:29325200-29326800	Weak transcription	Spleen	Spleen
15	chr12:29325200-29327000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:29325200-29327000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:29325200-29328400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:29325200-29329200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:29325200-29329800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:29325200-29330200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:29325200-29335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:29325400-29327600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:29325400-29329800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:29325400-29364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:29325600-29327600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:29325600-29327600	Weak transcription	Fetal Intestine Small	intestine
27	chr12:29325600-29344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:29325800-29328600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:29326400-29329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links