Variant report

Variant	rs72721000
Chromosome Location	chr1:180641033-180641034
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55742845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180631600-180644400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:180632200-180644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:180633200-180672000	Weak transcription	K562	blood
5	chr1:180633400-180642600	Weak transcription	Pancreas	Pancrea
6	chr1:180634000-180643400	Weak transcription	Left Ventricle	heart
7	chr1:180634800-180643800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:180635000-180642600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:180635000-180644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:180635200-180654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:180636400-180647200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:180636400-180651800	Weak transcription	Ovary	ovary
13	chr1:180636600-180641200	Weak transcription	Fetal Brain Male	brain
14	chr1:180639000-180641200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr1:180639800-180641200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:180640200-180643800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:180640200-180662200	Weak transcription	Fetal Heart	heart
18	chr1:180640600-180641200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:180640600-180641200	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr1:180640600-180660600	Weak transcription	Right Ventricle	heart
21	chr1:180640800-180641400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:180641000-180642200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:180641000-180653200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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