Variant report

Variant	rs10176291
Chromosome Location	chr2:208982076-208982077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11679982	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12624138	0.86[EUR][1000 genomes]
rs62192824	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62192851	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62192852	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6435409	0.83[EUR][1000 genomes]
rs6435410	0.85[EUR][1000 genomes]
rs6435412	0.91[EUR][1000 genomes]
rs6711600	0.86[EUR][1000 genomes]
rs6711708	0.88[EUR][1000 genomes]
rs6711724	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875745	chr2:208969865-208994045	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875746	chr2:208971007-208989708	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3443711	chr2:208977244-208989245	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10176291	ACADL	cis	parietal	SCAN
rs10176291	C2orf80	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208973200-208989000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:208978000-208988400	Weak transcription	Fetal Brain Female	brain
3	chr2:208978200-208983000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:208978400-208988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:208978600-208982400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:208978600-208983800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:208978600-208986200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:208981600-208982200	Enhancers	HepG2	liver
9	chr2:208981800-208984000	Enhancers	Placenta	Placenta
10	chr2:208982000-208982400	Enhancers	K562	blood
11	chr2:208982000-208982800	Enhancers	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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