Variant report

Variant	rs7959684
Chromosome Location	chr12:48783748-48783749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1107654	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11168460	1.00[CHB][hapmap]
rs2054905	1.00[CHB][hapmap]
rs2450994	1.00[CHD][hapmap]
rs2634681	1.00[CHD][hapmap]
rs2634684	1.00[CHD][hapmap]
rs2732448	1.00[CHD][hapmap]
rs2732457	1.00[CHD][hapmap]
rs2732466	1.00[CHD][hapmap]
rs2732481	1.00[CHD][hapmap]
rs2732484	1.00[CHD][hapmap]
rs7133497	0.82[AFR][1000 genomes]
rs7297824	1.00[CHB][hapmap]
rs7307566	1.00[CHB][hapmap]
rs7315820	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs923397	1.00[CHD][hapmap]

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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv975606	chr12:48748764-48784504	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7959684	ZNF641	cis	cerebellum	SCAN
rs7959684	SLC48A1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48781400-48784200	Enhancers	Hela-S3	cervix
2	chr12:48781800-48784200	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:48781800-48784400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:48781800-48784600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:48782400-48784200	Enhancers	NHDF-Ad	bronchial
6	chr12:48782600-48784200	Enhancers	Left Ventricle	heart
7	chr12:48782600-48784200	Enhancers	Stomach Smooth Muscle	stomach
8	chr12:48782600-48784400	Enhancers	Adipose Nuclei	Adipose
9	chr12:48782800-48784200	Enhancers	Aorta	Aorta
10	chr12:48782800-48784200	Enhancers	Right Atrium	heart
11	chr12:48782800-48784400	Enhancers	Right Ventricle	heart
12	chr12:48783400-48783800	Weak transcription	Brain Angular Gyrus	brain
13	chr12:48783600-48784000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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

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