Variant report

Variant	rs2940519
Chromosome Location	chr5:107996039-107996040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10039131	0.88[ASN][1000 genomes]
rs12719095	0.89[ASN][1000 genomes]
rs1355080	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2963050	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2963051	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957562	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957563	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4957777	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957781	0.82[ASN][1000 genomes]
rs62361278	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7719300	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7737443	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1024076	chr5:107991426-108028223	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1034158	chr5:107995509-108018395	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107990000-108006200	Weak transcription	Fetal Heart	heart
2	chr5:107992000-107996400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:107992200-107997000	Weak transcription	NH-A	brain
4	chr5:107992600-107996600	Weak transcription	NHDF-Ad	bronchial
5	chr5:107992600-107996600	Weak transcription	NHLF	lung
6	chr5:107992600-107997200	Weak transcription	NHEK	skin
7	chr5:107993600-107996400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:107995400-107997000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:107995600-107996600	Weak transcription	Pancreas	Pancrea
10	chr5:107995800-107996800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:107995800-107996800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:107995800-107997000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr5:107995800-107997200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:107996000-107996400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:107996000-107998400	Enhancers	Hela-S3	cervix
16	chr5:107996000-107999000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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