Variant report

Variant	rs530252056
Chromosome Location	chr3:119902288-119902289
allele	-/AGGG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119810057..119817149-chr3:119894256..119903865,22	MCF-7	breast:
2	chr3:119896267..119897823-chr3:119902121..119903746,2	MCF-7	breast:
3	chr3:119814363..119814891-chr3:119901625..119902317,2	Hela-S3	cervix:
4	chr3:119809943..119817218-chr3:119893934..119905581,30	MCF-7	breast:
5	chr3:119856115..119856652-chr3:119901410..119902399,3	MCF-7	breast:
6	chr3:119610502..119611380-chr3:119901494..119902513,3	MCF-7	breast:
7	chr3:119539576..119540526-chr3:119901251..119902442,9	MCF-7	breast:
8	chr3:119878912..119881945-chr3:119899697..119902370,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv1008362	chr3:119901774-119919670	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119892400-119914200	Weak transcription	Fetal Brain Female	brain
2	chr3:119896400-119921400	Weak transcription	Ovary	ovary
3	chr3:119897000-119906000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:119897000-119913200	Weak transcription	Fetal Stomach	stomach
5	chr3:119897000-119921400	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:119897200-119914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:119897400-119908000	Weak transcription	Placenta	Placenta
8	chr3:119899200-119902400	Enhancers	NHEK	skin
9	chr3:119899600-119902400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:119899600-119902400	Enhancers	HMEC	breast
11	chr3:119900800-119915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:119901400-119902400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:119901400-119902600	Enhancers	A549	lung
14	chr3:119901600-119902400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:119901600-119902400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:119901600-119902400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:119901600-119902400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:119901600-119902400	Enhancers	HUVEC	blood vessel
19	chr3:119901600-119902400	Enhancers	NHDF-Ad	bronchial
20	chr3:119901600-119902400	Enhancers	Osteobl	bone
21	chr3:119901600-119902600	Enhancers	Hela-S3	cervix
22	chr3:119901600-119902600	Enhancers	HSMM	muscle
23	chr3:119901600-119902800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:119901600-119902800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:119901800-119902400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr3:119902000-119902400	Enhancers	NHLF	lung

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