Variant report

Variant	rs10251707
Chromosome Location	chr7:40697882-40697883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11760535	1.00[CHB][hapmap]
rs11761250	1.00[CHB][hapmap]
rs11761336	1.00[CHB][hapmap]
rs11763592	1.00[CHB][hapmap]
rs11768774	1.00[CHB][hapmap]
rs11772576	1.00[CHB][hapmap]
rs12155334	1.00[CHB][hapmap]
rs17171734	1.00[CHB][hapmap]
rs17171756	0.83[EUR][1000 genomes]
rs17437228	0.82[EUR][1000 genomes]
rs17437429	1.00[CHB][hapmap]
rs17438052	1.00[CHB][hapmap]
rs17528214	1.00[CHB][hapmap]
rs17528582	1.00[CHB][hapmap]
rs2329818	1.00[CHB][hapmap]
rs34523428	1.00[CHB][hapmap]
rs3919491	1.00[CHB][hapmap]
rs4119077	1.00[CHB][hapmap]
rs4119078	1.00[CHB][hapmap]
rs4720370	1.00[CHB][hapmap]
rs6462988	1.00[CHB][hapmap]
rs6956181	1.00[CHB][hapmap]
rs6977963	1.00[CHB][hapmap]
rs73124004	0.83[EUR][1000 genomes]
rs73124005	0.83[EUR][1000 genomes]
rs73124006	0.83[EUR][1000 genomes]
rs73124009	0.83[EUR][1000 genomes]
rs73124015	0.83[EUR][1000 genomes]
rs73124018	0.83[EUR][1000 genomes]
rs73124020	0.83[EUR][1000 genomes]
rs73124021	0.83[EUR][1000 genomes]
rs73124023	0.83[EUR][1000 genomes]
rs7779570	1.00[CHB][hapmap]
rs7800409	1.00[CHB][hapmap]
rs7812176	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking 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
3	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10251707	STARD3NL	cis	cerebellum	SCAN
rs10251707	STARD3NL	cis	parietal	SCAN
rs10251707	DDX56	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40680600-40698000	Weak transcription	HSMMtube	muscle
2	chr7:40686400-40698200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:40690600-40698800	Weak transcription	Pancreas	Pancrea
4	chr7:40694200-40698000	Weak transcription	Aorta	Aorta
5	chr7:40695400-40698000	Weak transcription	HSMM	muscle
6	chr7:40695600-40698000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:40695600-40698200	Weak transcription	Osteobl	bone
8	chr7:40696000-40698000	Weak transcription	NHDF-Ad	bronchial
9	chr7:40696000-40698600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:40696600-40698000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:40697800-40699600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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