Variant report

Variant	rs7133346
Chromosome Location	chr12:29194013-29194014
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10771468	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771469	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050009	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12582356	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2349567	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7133121	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7133346	RP11-996F15.2	cis	Thyroid	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29190000-29194200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:29191400-29194200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:29191400-29197200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:29191600-29194400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:29191600-29196000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:29191800-29194800	Enhancers	Fetal Intestine Large	intestine
7	chr12:29191800-29194800	Enhancers	Fetal Intestine Small	intestine
8	chr12:29191800-29197000	Enhancers	NHLF	lung
9	chr12:29192400-29194400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:29192600-29194400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:29192600-29194600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr12:29192600-29195600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:29192800-29194200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:29192800-29194400	Weak transcription	Fetal Kidney	kidney
15	chr12:29192800-29194400	Enhancers	NHDF-Ad	bronchial
16	chr12:29193000-29194400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr12:29193200-29194200	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:29193200-29196000	Weak transcription	Fetal Stomach	stomach
19	chr12:29193800-29194400	Enhancers	Osteobl	bone
20	chr12:29193800-29195000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:29194000-29195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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