Variant report

Variant	rs73378502
Chromosome Location	chr7:80861509-80861510
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:8)

rs_ID	r²[population]
rs12112311	0.94[EUR][1000 genomes]
rs17154928	0.88[ASN][1000 genomes]
rs17154936	0.88[ASN][1000 genomes]
rs17154941	0.95[ASN][1000 genomes]
rs17154948	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2190296	0.88[ASN][1000 genomes]
rs327711	0.94[EUR][1000 genomes]
rs4728375	0.96[EUR][1000 genomes];0.90[ASN][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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888557	chr7:80813081-80917148	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023149	chr7:80817550-80928090	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831045	chr7:80841693-81012404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv888558	chr7:80844667-80917148	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv607686	chr7:80857196-80917148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80859000-80864600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:80859600-80863400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:80859600-80864400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:80859600-80864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:80860600-80861800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:80860600-80861800	Enhancers	Psoas Muscle	Psoas
7	chr7:80860600-80861800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:80860600-80862000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:80860600-80863000	Enhancers	Fetal Muscle Leg	muscle
10	chr7:80861000-80862800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:80861400-80861800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:80861400-80861800	Enhancers	Pancreas	Pancrea
13	chr7:80861400-80863200	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:80861400-80865200	Weak transcription	Fetal Lung	lung

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

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