Variant report

Variant	rs10476546
Chromosome Location	chr5:95552596-95552597
allele	C/T
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	MAFK	chr5:95552316-95552598	HepG2	liver:	n/a	chr5:95552444-95552459

Variant related genes	Relation type
ENSG00000249746	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10037912	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10476664	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866767	0.91[CEU][hapmap]
rs11135450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11948972	0.86[CEU][hapmap]
rs1353797	0.86[EUR][1000 genomes]
rs155971	0.83[CEU][hapmap]
rs156019	0.83[CEU][hapmap]
rs156021	0.82[CEU][hapmap]
rs1874929	0.86[EUR][1000 genomes]
rs271921	0.82[CEU][hapmap]
rs271923	0.82[CEU][hapmap];0.80[GIH][hapmap];0.81[MEX][hapmap]
rs271939	0.82[EUR][1000 genomes]
rs271947	0.82[EUR][1000 genomes]
rs2936428	0.82[EUR][1000 genomes]
rs3922468	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4367317	0.82[AFR][1000 genomes]
rs4379224	0.91[YRI][hapmap]
rs4529218	0.91[CEU][hapmap]
rs4635955	0.82[AFR][1000 genomes]
rs4637573	0.91[CEU][hapmap]
rs4869275	0.82[AFR][1000 genomes]
rs56311820	0.82[AFR][1000 genomes]
rs62366027	0.87[AFR][1000 genomes]
rs6875585	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv518730	chr5:95547545-95569569	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	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
rs10476546	TTC37	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95533000-95555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:95545800-95555600	Weak transcription	Psoas Muscle	Psoas
3	chr5:95546200-95555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:95546400-95555000	Weak transcription	NHDF-Ad	bronchial
5	chr5:95546400-95555200	Weak transcription	HSMM	muscle
6	chr5:95546600-95553400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:95547200-95554400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:95550600-95555200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:95550800-95553800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:95550800-95554400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:95550800-95555000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:95550800-95555000	Weak transcription	Osteobl	bone
13	chr5:95550800-95555400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:95550800-95555400	Weak transcription	NHLF	lung
15	chr5:95551400-95555600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:95551400-95555600	Weak transcription	A549	lung
17	chr5:95551400-95561600	Weak transcription	HepG2	liver
18	chr5:95552200-95552600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:95552200-95552600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:95552400-95552600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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