Variant report

Variant	rs12578794
Chromosome Location	chr12:122667139-122667140
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122666904-122667149	K562	blood:	n/a	n/a

Variant related genes	Relation type
LRRC43	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11834748	1.00[EUR][1000 genomes]
rs11837919	1.00[EUR][1000 genomes]
rs12581610	1.00[EUR][1000 genomes]
rs36007482	1.00[EUR][1000 genomes]
rs57069824	1.00[EUR][1000 genomes]
rs57141433	1.00[EUR][1000 genomes]
rs57302703	1.00[EUR][1000 genomes]
rs57785455	1.00[EUR][1000 genomes]
rs58010238	1.00[EUR][1000 genomes]
rs58270183	1.00[EUR][1000 genomes]
rs59731700	1.00[EUR][1000 genomes]
rs7315448	1.00[EUR][1000 genomes]
rs73419768	1.00[EUR][1000 genomes]
rs7961377	1.00[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122658800-122667400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:122662200-122667200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:122662400-122667200	Weak transcription	Liver	Liver
4	chr12:122662400-122667200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:122662400-122667200	Weak transcription	Fetal Intestine Small	intestine
6	chr12:122665400-122667200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:122665400-122667200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:122665400-122667400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:122665400-122667400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:122665400-122667400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:122665400-122667400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:122665400-122667400	Weak transcription	Right Ventricle	heart
13	chr12:122665400-122667400	Weak transcription	HSMMtube	muscle
14	chr12:122665400-122667400	Weak transcription	NH-A	brain
15	chr12:122665400-122667400	Weak transcription	Osteobl	bone
16	chr12:122665400-122667600	Weak transcription	NHLF	lung
17	chr12:122665600-122667200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:122665800-122667200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:122665800-122667200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:122665800-122667200	Weak transcription	HUVEC	blood vessel
21	chr12:122665800-122667400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:122665800-122667400	Weak transcription	HMEC	breast
23	chr12:122665800-122667400	Weak transcription	NHEK	skin
24	chr12:122667000-122667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:122667000-122667400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:122667000-122667400	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:122667000-122667400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:122667000-122667600	Flanking Active TSS	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links