Variant report

Variant	rs6968534
Chromosome Location	chr7:65665056-65665057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34888281	0.81[ASN][1000 genomes]
rs4149457	0.84[ASN][1000 genomes]
rs4433015	0.90[ASN][1000 genomes]
rs4636083	0.98[ASN][1000 genomes]
rs6974355	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs781151	1.00[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs6968534	RABGEF1	cis	parietal	SCAN
rs6968534	ZNF273	cis	cerebellum	SCAN
rs6968534	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs6968534	KCTD7	cis	parietal	SCAN
rs6968534	CRCP	cis	parietal	SCAN
rs6968534	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs6968534	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs6968534	CRCP	cis	cerebellum	SCAN
rs6968534	RP4-756H11.3	cis	Artery Tibial	GTEx
rs6968534	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs6968534	GUSB	cis	cerebellum	SCAN
rs6968534	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs6968534	RP4-756H11.3	cis	Thyroid	GTEx
rs6968534	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs6968534	ERV3	cis	parietal	SCAN
rs6968534	GUSB	cis	parietal	SCAN
rs6968534	RP4-756H11.3	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65660800-65669800	Weak transcription	Spleen	Spleen
2	chr7:65661600-65669400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:65663600-65669600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:65663600-65669600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:65663800-65669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:65664200-65669600	Weak transcription	HSMMtube	muscle
7	chr7:65664800-65665200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:65665000-65665200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:65665000-65665200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:65665000-65665200	Flanking Active TSS	HepG2	liver
11	chr7:65665000-65666000	Enhancers	Placenta	Placenta

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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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