Variant report

Variant	rs6970438
Chromosome Location	chr7:139499970-139499971
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]
rs10257313	0.86[EUR][1000 genomes]
rs2079845	0.86[EUR][1000 genomes]
rs2109337	0.89[EUR][1000 genomes]
rs2159484	0.85[EUR][1000 genomes]
rs4311593	0.86[EUR][1000 genomes]
rs4726776	0.85[EUR][1000 genomes]
rs6976974	0.85[EUR][1000 genomes]
rs9632668	0.84[EUR][1000 genomes]
rs9632670	0.82[EUR][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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv464733	chr7:139491967-139539218	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv608473	chr7:139491967-139539218	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139485000-139502200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:139489400-139502600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:139497600-139503400	Weak transcription	Fetal Stomach	stomach
4	chr7:139497800-139500200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:139498000-139500000	Enhancers	Stomach Mucosa	stomach
6	chr7:139498000-139500200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:139498000-139500200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr7:139498200-139500600	Weak transcription	Gastric	stomach
9	chr7:139498200-139503400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:139498400-139500000	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:139498600-139500000	Enhancers	GM12878-XiMat	blood
12	chr7:139498800-139501400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:139499200-139502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:139499400-139500000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:139499400-139500000	Enhancers	Adipose Nuclei	Adipose
16	chr7:139499600-139500000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:139499600-139500000	Enhancers	Fetal Muscle Leg	muscle
18	chr7:139499600-139500400	Enhancers	HSMMtube	muscle
19	chr7:139499800-139500000	Enhancers	Left Ventricle	heart

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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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