Variant report

Variant	rs2708643
Chromosome Location	chr7:129612743-129612744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1965542	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2692446	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2692447	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2692449	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2708635	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2708638	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2708639	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2708644	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2727509	0.81[EUR][1000 genomes]
rs2727511	0.83[AMR][1000 genomes]
rs6955829	0.83[AMR][1000 genomes]
rs73473720	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129598800-129629600	Weak transcription	Right Atrium	heart
2	chr7:129611000-129613400	Weak transcription	Hela-S3	cervix
3	chr7:129611000-129613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:129611000-129613600	Weak transcription	A549	lung
5	chr7:129611000-129613800	Weak transcription	HepG2	liver
6	chr7:129611000-129614000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:129611000-129616600	Weak transcription	Placenta	Placenta
8	chr7:129611200-129613600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:129611200-129614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:129611400-129613200	Weak transcription	Esophagus	oesophagus
11	chr7:129611400-129613800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:129611400-129614000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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