Variant report

Variant	rs72952884
Chromosome Location	chr3:119899265-119899266
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119865007..119867802-chr3:119897494..119899931,3	MCF-7	breast:
2	chr3:119810057..119817149-chr3:119894256..119903865,22	MCF-7	breast:
3	chr3:119814064..119816166-chr3:119898590..119900183,2	K562	blood:
4	chr3:119871941..119873702-chr3:119897791..119900404,2	MCF-7	breast:
5	chr3:119809943..119817218-chr3:119893934..119905581,30	MCF-7	breast:
6	chr3:119887283..119893170-chr3:119894592..119900399,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57147159	1.00[AMR][1000 genomes]
rs60282320	1.00[AMR][1000 genomes]
rs6802912	1.00[AMR][1000 genomes]
rs72952818	1.00[AMR][1000 genomes]
rs72952850	1.00[AMR][1000 genomes]
rs72952852	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952863	1.00[AMR][1000 genomes]
rs72952877	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954705	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954727	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954733	1.00[AMR][1000 genomes]
rs72954750	1.00[AMR][1000 genomes]
rs72954753	1.00[AMR][1000 genomes]
rs72954777	1.00[AMR][1000 genomes]
rs72954784	1.00[AMR][1000 genomes]
rs72969139	1.00[AMR][1000 genomes]
rs72969151	1.00[AMR][1000 genomes]
rs72969159	1.00[AMR][1000 genomes]
rs72969184	1.00[AMR][1000 genomes]
rs72969194	1.00[AMR][1000 genomes]
rs72971030	1.00[AMR][1000 genomes]
rs72971057	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv3967	chr3:119857708-119903115	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv1013788	chr3:119866722-119912297	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119892400-119914200	Weak transcription	Fetal Brain Female	brain
2	chr3:119896200-119900000	Weak transcription	Fetal Intestine Small	intestine
3	chr3:119896400-119899600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:119896400-119900000	Weak transcription	Esophagus	oesophagus
5	chr3:119896400-119921400	Weak transcription	Ovary	ovary
6	chr3:119896800-119900000	Weak transcription	Fetal Intestine Large	intestine
7	chr3:119896800-119901600	Weak transcription	NH-A	brain
8	chr3:119897000-119899800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:119897000-119901600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:119897000-119901600	Weak transcription	Psoas Muscle	Psoas
11	chr3:119897000-119901600	Weak transcription	HSMM	muscle
12	chr3:119897000-119901600	Weak transcription	HSMMtube	muscle
13	chr3:119897000-119902000	Weak transcription	NHLF	lung
14	chr3:119897000-119906000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:119897000-119913200	Weak transcription	Fetal Stomach	stomach
16	chr3:119897000-119921400	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:119897200-119899600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:119897200-119899600	Weak transcription	HMEC	breast
19	chr3:119897200-119899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:119897200-119900000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:119897200-119900800	Weak transcription	A549	lung
22	chr3:119897200-119901600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:119897200-119901600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:119897200-119901600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:119897200-119901600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:119897200-119901600	Weak transcription	HUVEC	blood vessel
27	chr3:119897200-119901600	Weak transcription	Osteobl	bone
28	chr3:119897200-119901800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:119897200-119914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:119897400-119908000	Weak transcription	Placenta	Placenta
31	chr3:119897600-119901600	Weak transcription	NHDF-Ad	bronchial
32	chr3:119898400-119901000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:119899000-119899400	Flanking Active TSS	Fetal Lung	lung
34	chr3:119899000-119902200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:119899200-119899400	Enhancers	Hela-S3	cervix
36	chr3:119899200-119901000	Enhancers	HepG2	liver
37	chr3:119899200-119902400	Enhancers	NHEK	skin

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