Variant report

Variant	rs7001956
Chromosome Location	chr8:67223238-67223239
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10109505	0.86[EUR][1000 genomes]
rs1080634	0.85[EUR][1000 genomes]
rs16932810	0.84[EUR][1000 genomes]
rs17319640	0.84[EUR][1000 genomes]
rs28536124	0.84[EUR][1000 genomes]
rs55804693	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56336230	0.87[EUR][1000 genomes]
rs6472266	0.87[EUR][1000 genomes]
rs6981785	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7010677	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7011259	0.85[EUR][1000 genomes]
rs7018347	0.86[EUR][1000 genomes]
rs73691523	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7822867	0.89[EUR][1000 genomes]
rs7839868	0.86[EUR][1000 genomes]
rs949987	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs949989	0.88[EUR][1000 genomes]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv6235	chr8:67188081-67232737	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7001956	ADHFE1	cis	Skin Sun Exposed Lower leg	GTEx
rs7001956	YPEL1	cis	Cerebellum	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67204400-67226800	Weak transcription	Pancreas	Pancrea
2	chr8:67204400-67232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67220800-67224000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:67221200-67223400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:67222400-67223600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:67222600-67223600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:67222600-67223800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:67222600-67224000	Weak transcription	Osteobl	bone
9	chr8:67222600-67228000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:67223000-67223400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:67223000-67223600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:67223000-67224000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:67223200-67223400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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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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