Variant report

Variant	rs72931930
Chromosome Location	chr1:67526283-67526284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67521487..67523144-chr1:67524256..67526515,2	MCF-7	breast:
2	chr1:67517083..67523474-chr1:67524061..67529015,12	K562	blood:
3	chr1:67519279..67521174-chr1:67525171..67527143,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116704	Chromatin interaction

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

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

rs_ID	r²[population]
rs11800236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059621	1.00[ASN][1000 genomes]
rs12097741	1.00[ASN][1000 genomes]
rs55751500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58625335	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60668571	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660202	0.95[EUR][1000 genomes]
rs72931926	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931938	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74079200	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67520400-67526600	Weak transcription	Pancreas	Pancrea
2	chr1:67524000-67527200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:67524000-67527200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:67524000-67527400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:67524000-67527400	Enhancers	NHLF	lung
6	chr1:67524000-67527600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:67524200-67527200	Enhancers	HMEC	breast
8	chr1:67524200-67527200	Enhancers	Osteobl	bone
9	chr1:67524200-67527400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:67524200-67527400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:67524200-67527600	Enhancers	NHDF-Ad	bronchial
12	chr1:67524200-67527800	Enhancers	HSMM	muscle
13	chr1:67524400-67527200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:67524400-67527200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:67524400-67527200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:67524400-67527200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:67524400-67527400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:67524400-67527400	Enhancers	NHEK	skin
19	chr1:67524600-67526400	Weak transcription	K562	blood
20	chr1:67524600-67529200	Weak transcription	Stomach Mucosa	stomach
21	chr1:67525000-67526400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:67525200-67526400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:67525600-67527400	Enhancers	HSMMtube	muscle
24	chr1:67525800-67527000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:67525800-67527000	Enhancers	HepG2	liver
26	chr1:67525800-67527400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:67525800-67527400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:67526000-67527200	Enhancers	A549	lung
29	chr1:67526000-67527200	Enhancers	NH-A	brain
30	chr1:67526200-67526600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:67526200-67527000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:67526200-67527000	Enhancers	Hela-S3	cervix

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