Variant report

Variant	rs13241957
Chromosome Location	chr7:18808396-18808397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1178155	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6959028	0.82[CEU][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13241957	FERD3L	cis	cerebellum	SCAN
rs13241957	DNAH11	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18765200-18810600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:18787800-18810800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:18789000-18808600	Weak transcription	Left Ventricle	heart
4	chr7:18790600-18835000	Weak transcription	Primary B cells from cord blood	blood
5	chr7:18802000-18809800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:18802400-18810800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:18807200-18811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:18807400-18809600	Enhancers	NH-A	brain
9	chr7:18807600-18812200	Enhancers	HSMM	muscle
10	chr7:18807600-18812400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:18807800-18808400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:18807800-18809600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:18807800-18809600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:18807800-18810000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:18807800-18810000	Enhancers	Osteobl	bone
16	chr7:18807800-18810200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:18807800-18810600	Enhancers	HSMMtube	muscle
18	chr7:18807800-18812000	Enhancers	NHDF-Ad	bronchial
19	chr7:18808000-18808800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:18808000-18811800	Weak transcription	Fetal Brain Female	brain
21	chr7:18808200-18809000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:18808200-18809600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:18808200-18823200	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links