Variant report

Variant	rs62483171
Chromosome Location	chr7:127207517-127207518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11761988	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11764631	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11767380	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1419430	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1557643	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17715255	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17715285	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34952162	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35195581	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4728072	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4728073	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4728075	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4731370	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55657491	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57867532	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58894662	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6970053	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs990032	0.93[AMR][1000 genomes];0.91[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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv1801682	chr7:127188972-127209982	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv1791836	chr7:127203830-127217590	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1803984	chr7:127203830-127217590	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1825916	chr7:127203830-127217590	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1846876	chr7:127203830-127217590	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1850711	chr7:127203830-127217590	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127200600-127221400	Weak transcription	Pancreas	Pancrea
2	chr7:127203200-127214000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:127203200-127214200	Weak transcription	Primary T cells from cord blood	blood
4	chr7:127203400-127220400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:127203600-127211800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:127203600-127218400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:127203600-127221400	Weak transcription	Left Ventricle	heart
8	chr7:127203800-127218400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:127204400-127217000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:127204400-127221000	Weak transcription	Aorta	Aorta
11	chr7:127204800-127219800	Weak transcription	Liver	Liver
12	chr7:127205400-127217000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:127205400-127218200	Weak transcription	Lung	lung
14	chr7:127207000-127211800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:127207400-127214200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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