Variant report

Variant	rs7958412
Chromosome Location	chr12:86231044-86231045
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506916	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12298763	0.91[EUR][1000 genomes]
rs12310742	0.91[EUR][1000 genomes]
rs12315144	0.91[EUR][1000 genomes]
rs17013401	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7298173	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
7	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86229800-86231200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr12:86229800-86231200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:86230400-86231200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:86230400-86231200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:86230400-86231400	Enhancers	Stomach Mucosa	stomach
6	chr12:86230600-86231200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:86230600-86231200	Enhancers	Fetal Intestine Large	intestine
8	chr12:86230600-86231200	Enhancers	Fetal Intestine Small	intestine
9	chr12:86230600-86231200	Enhancers	Pancreas	Pancrea
10	chr12:86230600-86231400	Enhancers	Ovary	ovary
11	chr12:86230600-86232000	Weak transcription	Right Atrium	heart
12	chr12:86230800-86231200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:86230800-86231200	Enhancers	A549	lung
14	chr12:86230800-86235000	Weak transcription	Fetal Heart	heart
15	chr12:86231000-86231200	Enhancers	Lung	lung
16	chr12:86231000-86231200	Enhancers	Hela-S3	cervix
17	chr12:86231000-86237400	Weak transcription	HepG2	liver
18	chr12:86231000-86238800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:86231000-86240400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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

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