Variant report

Variant	rs727390
Chromosome Location	chr7:79034026-79034027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10256590	0.81[ASN][1000 genomes]
rs10269174	0.81[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs1406151	0.86[CEU][hapmap]
rs17152303	0.86[CEU][hapmap]
rs17152310	0.86[CEU][hapmap]
rs17152326	0.85[CEU][hapmap]
rs17152344	0.81[EUR][1000 genomes]
rs17421752	0.80[ASN][1000 genomes]
rs2190178	0.82[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2364916	0.82[ASN][1000 genomes]
rs28427380	0.80[ASN][1000 genomes]
rs6950887	0.81[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs7804381	0.86[CEU][hapmap]
rs7804560	0.86[CEU][hapmap]
rs9969364	0.81[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv888514	chr7:78987060-79061837	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv607664	chr7:78998409-79057761	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv607665	chr7:79027730-79063644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv607666	chr7:79029872-79063644	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv607667	chr7:79029872-79065268	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv607668	chr7:79029872-79070452	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	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	chr7:79028000-79034600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:79029800-79036400	Enhancers	Liver	Liver
3	chr7:79030800-79034800	Weak transcription	Brain Substantia Nigra	brain
4	chr7:79030800-79036800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:79031000-79034800	Weak transcription	Adipose Nuclei	Adipose
6	chr7:79031000-79040800	Weak transcription	Brain Anterior Caudate	brain
7	chr7:79033000-79035000	Enhancers	Brain Hippocampus Middle	brain
8	chr7:79033200-79034400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:79033600-79034600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:79033600-79035200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:79033600-79035600	Weak transcription	Osteobl	bone
12	chr7:79033600-79036200	Weak transcription	Brain Angular Gyrus	brain
13	chr7:79033600-79036400	Weak transcription	Fetal Heart	heart
14	chr7:79033600-79039600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:79033800-79034400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:79033800-79035200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:79033800-79035600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:79033800-79035800	Weak transcription	NHLF	lung

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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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