Variant report

Variant	rs302130
Chromosome Location	chr7:83328088-83328089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1144603	0.96[EUR][1000 genomes]
rs1181370	0.95[EUR][1000 genomes]
rs172538	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492201	0.85[ASN][1000 genomes]
rs567663	0.85[ASN][1000 genomes]
rs579811	0.83[ASN][1000 genomes]
rs646631	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs661014	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017248	chr7:83189888-83385765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2753501	chr7:83250118-83336854	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1017237	chr7:83262951-83423389	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758122	chr7:83300506-83460112	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759541	chr7:83300506-83460112	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv888609	chr7:83307600-83403157	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv888610	chr7:83307600-83411926	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv888611	chr7:83318875-83415942	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv888612	chr7:83326808-83408914	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83319600-83331600	Weak transcription	Fetal Lung	lung
2	chr7:83324600-83328600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr7:83326000-83328600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:83326800-83328200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:83327200-83328200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:83327600-83328200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr7:83327600-83328200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
8	chr7:83327600-83328200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:83327600-83328200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:83327800-83328200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr7:83327800-83328200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:83327800-83328200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:83327800-83328400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:83327800-83328400	Enhancers	NHDF-Ad	bronchial
15	chr7:83328000-83328400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:83328000-83328400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:83328000-83331000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:83328000-83331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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

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