Variant report

Variant	rs12704296
Chromosome Location	chr7:86501424-86501425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11980329	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12704294	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12704297	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36098544	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55979904	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67263053	0.93[EUR][1000 genomes]
rs7781002	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7788115	0.92[EUR][1000 genomes]
rs7797095	0.83[EUR][1000 genomes];0.83[ASN][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	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
7	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86481400-86525800	Weak transcription	Brain Angular Gyrus	brain
2	chr7:86495200-86503400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:86495200-86542000	Weak transcription	Brain Substantia Nigra	brain
4	chr7:86495600-86509400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:86495800-86550000	Weak transcription	Lung	lung
6	chr7:86497000-86517800	Weak transcription	Adipose Nuclei	Adipose
7	chr7:86497200-86502000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:86497200-86516600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:86497400-86503000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:86497400-86518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:86498200-86517800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:86498400-86576200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:86498600-86517600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:86498600-86518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:86499800-86518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:86500400-86503400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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