Variant report

Variant	rs72980994
Chromosome Location	chr3:139035245-139035246
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56041176	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6439849	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770374	0.95[ASN][1000 genomes]
rs6807527	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6807695	0.95[ASN][1000 genomes]
rs72981002	1.00[ASN][1000 genomes]
rs73866061	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591856	chr3:139000844-139037832	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1005158	chr3:139001736-139073011	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv4034	chr3:139034976-139080133	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:139026000-139038800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:139028000-139036000	Weak transcription	Pancreas	Pancrea
3	chr3:139032200-139036000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:139032400-139035800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:139032400-139036200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:139032400-139036600	Weak transcription	NHDF-Ad	bronchial
7	chr3:139032400-139048000	Weak transcription	Right Atrium	heart
8	chr3:139032600-139036200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:139032600-139036200	Weak transcription	A549	lung
10	chr3:139032600-139036200	Weak transcription	HMEC	breast
11	chr3:139033000-139036000	Weak transcription	Hela-S3	cervix
12	chr3:139033200-139037000	Weak transcription	Ovary	ovary
13	chr3:139033800-139036000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:139034800-139035600	Weak transcription	K562	blood
15	chr3:139035000-139036000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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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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