Variant report

Variant	rs7165067
Chromosome Location	chr15:40028415-40028416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1105159	0.81[CHB][hapmap]
rs11070231	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs1166723	0.82[YRI][hapmap]
rs12911549	0.81[CHB][hapmap]
rs1906152	0.81[CHB][hapmap]
rs1906156	0.81[CHB][hapmap]
rs1994379	0.86[CHB][hapmap]
rs2412426	0.94[MKK][hapmap]
rs2576932	0.83[YRI][hapmap]
rs2576933	0.83[YRI][hapmap]
rs2631697	0.81[CHB][hapmap]
rs2631700	0.81[CHB][hapmap]
rs2631701	0.83[CHB][hapmap]
rs2631702	0.81[CHB][hapmap]
rs2631705	0.81[CHB][hapmap]
rs2664135	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs3103065	0.81[CHB][hapmap]
rs4572354	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs6492909	0.80[CHB][hapmap]
rs6492914	0.91[YRI][hapmap]
rs7179417	0.81[YRI][hapmap]
rs951358	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7165067	GJD2	cis	cerebellum	SCAN
rs7165067	VPS18	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40021800-40038000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:40027000-40029400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr15:40027600-40028600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:40027600-40028800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:40027600-40029600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:40028200-40029200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr15:40028400-40029000	Enhancers	Fetal Kidney	kidney
8	chr15:40028400-40029000	Enhancers	Right Atrium	heart
9	chr15:40028400-40029200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:40028400-40029200	Enhancers	Fetal Muscle Leg	muscle
11	chr15:40028400-40029400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:40028400-40029400	Enhancers	Adipose Nuclei	Adipose
13	chr15:40028400-40029600	Enhancers	Placenta	Placenta
14	chr15:40028400-40029600	Enhancers	Fetal Stomach	stomach
15	chr15:40028400-40029600	Enhancers	Left Ventricle	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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