Variant report

Variant	rs72952850
Chromosome Location	chr3:119870728-119870729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119870692..119873578-chr3:119876530..119878351,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs57147159	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60282320	1.00[AMR][1000 genomes]
rs6802912	1.00[AMR][1000 genomes]
rs72952818	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952852	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952863	1.00[AMR][1000 genomes]
rs72952877	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952884	1.00[AMR][1000 genomes]
rs72954705	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954727	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]
rs72967200	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:7 , 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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119864600-119871800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:119864800-119871600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:119865000-119870800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:119865000-119870800	Weak transcription	Osteobl	bone
5	chr3:119866600-119870800	Weak transcription	NHDF-Ad	bronchial
6	chr3:119866600-119871400	Weak transcription	Lung	lung
7	chr3:119866800-119871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:119867000-119870800	Weak transcription	Stomach Mucosa	stomach
9	chr3:119867000-119872000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:119867200-119871800	Enhancers	NHEK	skin
11	chr3:119867200-119872000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:119867200-119873400	Weak transcription	HSMMtube	muscle
13	chr3:119867600-119871000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:119867600-119871400	Weak transcription	Spleen	Spleen
15	chr3:119867600-119872000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:119867800-119870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:119867800-119870800	Weak transcription	Placenta	Placenta
18	chr3:119867800-119870800	Weak transcription	Hela-S3	cervix
19	chr3:119867800-119870800	Weak transcription	HUVEC	blood vessel
20	chr3:119867800-119871000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:119867800-119871800	Weak transcription	Adipose Nuclei	Adipose
22	chr3:119867800-119871800	Weak transcription	Left Ventricle	heart
23	chr3:119869400-119871200	Enhancers	Fetal Intestine Small	intestine
24	chr3:119870200-119871200	Enhancers	Fetal Intestine Large	intestine
25	chr3:119870200-119871800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:119870200-119872800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:119870400-119870800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:119870400-119871000	Enhancers	HepG2	liver
29	chr3:119870400-119873000	Enhancers	HMEC	breast
30	chr3:119870600-119871800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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