Variant report

Variant	rs7302361
Chromosome Location	chr12:59159601-59159602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12369625	0.82[EUR][1000 genomes]
rs1497237	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7358623	0.85[ASN][1000 genomes]

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	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
3	nsv1049807	chr12:59069437-59227711	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv826390	chr12:59097995-59199786	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7302361	GLS2	cis	parietal	SCAN
rs7302361	RBMS2	cis	cerebellum	SCAN
rs7302361	AMHR2	cis	parietal	SCAN
rs7302361	ATP5B	cis	parietal	SCAN
rs7302361	COQ10A	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59154600-59160200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:59156800-59160000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:59157800-59162600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr12:59158200-59160200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:59158200-59160400	Enhancers	Colon Smooth Muscle	Colon
6	chr12:59158200-59160400	Enhancers	Ovary	ovary
7	chr12:59158400-59160600	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:59158600-59159800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:59158600-59160200	Weak transcription	Pancreas	Pancrea
10	chr12:59158800-59160400	Enhancers	Fetal Intestine Large	intestine
11	chr12:59159000-59160800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:59159000-59160800	Enhancers	Stomach Mucosa	stomach
13	chr12:59159200-59159800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:59159400-59159800	Weak transcription	Liver	Liver
15	chr12:59159400-59160000	Active TSS	A549	lung
16	chr12:59159400-59160400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:59159600-59159800	Flanking Active TSS	HepG2	liver

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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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