Variant report

Variant	rs868795
Chromosome Location	chr12:121371233-121371234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1039302	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs10431387	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10437838	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10774568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10774569	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10774571	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10849786	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10849788	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10849810	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10849811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10849822	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065259	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11065298	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11065322	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11833706	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1186380	0.95[ASN][1000 genomes]
rs12299217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393718	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3213568	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3213571	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3809314	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6489780	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6489782	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap]
rs7135147	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7139145	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs715319	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7298639	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7965332	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7977343	1.00[CHB][hapmap];1.00[JPT][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1838192	chr12:121363589-121402932	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs868795	COQ5	cis	cerebellum	SCAN
rs868795	FLJ12448	cis	multi-tissue	Pritchard
rs868795	CABP1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121364400-121374000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:121367000-121374800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:121367400-121394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121367600-121374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:121370800-121371400	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:121370800-121371400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:121370800-121371800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:121370800-121373200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:121371000-121371400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:121371000-121371600	Enhancers	Placenta	Placenta
11	chr12:121371200-121371400	Weak transcription	Spleen	Spleen
12	chr12:121371200-121371600	Bivalent Enhancer	HepG2	liver
13	chr12:121371200-121375000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:121371200-121380200	Enhancers	Primary monocytes fromperipheralblood	blood

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