Variant report

Variant	rs7612740
Chromosome Location	chr3:146221640-146221641
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:146219569..146222344-chr3:146250325..146252358,2	K562	blood:
2	chr3:146220307..146222805-chr3:146260005..146263724,3	MCF-7	breast:
3	chr3:146220774..146222428-chr3:146226537..146229465,2	MCF-7	breast:
4	chr3:146220348..146223181-chr3:146248231..146251179,2	K562	blood:
5	chr3:146220962..146225419-chr3:146230623..146236617,7	MCF-7	breast:
6	chr3:146139398..146141443-chr3:146220518..146223634,3	MCF-7	breast:
7	chr3:146100063..146100757-chr3:146220788..146221766,2	MCF-7	breast:
8	chr3:146219980..146222907-chr3:146245390..146248406,3	MCF-7	breast:
9	chr3:146219517..146222555-chr3:146227614..146231140,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188313	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6787696	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6801786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448053	chr3:146186791-146262066	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3523751	chr3:146186838-146261806	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv3523753	chr3:146186838-146261806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2496437	chr3:146186902-146262961	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv3416587	chr3:146191303-146222138	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146214200-146235400	Weak transcription	Right Atrium	heart
2	chr3:146216000-146221800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:146216000-146232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:146216200-146224000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:146216200-146230000	Weak transcription	Primary B cells from cord blood	blood
6	chr3:146216600-146230200	Weak transcription	Primary T cells from cord blood	blood
7	chr3:146218400-146232200	Weak transcription	Aorta	Aorta
8	chr3:146220200-146224200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr3:146220200-146230400	Weak transcription	Spleen	Spleen
10	chr3:146220400-146225600	Enhancers	NHDF-Ad	bronchial
11	chr3:146220600-146222600	Enhancers	Stomach Mucosa	stomach
12	chr3:146220600-146223000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:146220600-146223000	Enhancers	K562	blood
14	chr3:146220600-146223600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:146220600-146225400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:146220600-146225600	Enhancers	Osteobl	bone
17	chr3:146220600-146226200	Enhancers	Hela-S3	cervix
18	chr3:146220800-146221800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:146220800-146221800	Weak transcription	Esophagus	oesophagus
20	chr3:146220800-146223000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:146220800-146223000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:146220800-146225200	Weak transcription	Pancreas	Pancrea
23	chr3:146220800-146225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:146220800-146225600	Enhancers	HSMM	muscle
25	chr3:146220800-146225800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:146220800-146225800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:146220800-146226000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:146220800-146226200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:146221000-146221800	Flanking Active TSS	NHEK	skin
30	chr3:146221000-146225000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:146221000-146225400	Enhancers	NHLF	lung
32	chr3:146221000-146226000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:146221000-146226400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:146221200-146221800	Flanking Active TSS	A549	lung
35	chr3:146221200-146222200	Flanking Active TSS	GM12878-XiMat	blood
36	chr3:146221200-146222800	Enhancers	Placenta	Placenta
37	chr3:146221200-146225600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:146221200-146226000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:146221200-146226200	Enhancers	HUVEC	blood vessel
40	chr3:146221400-146221800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:146221400-146221800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:146221400-146221800	Enhancers	HepG2	liver
43	chr3:146221400-146221800	Flanking Active TSS	NH-A	brain
44	chr3:146221400-146222000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:146221400-146222200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr3:146221400-146225800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:146221400-146226000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:146221600-146221800	Enhancers	Colonic Mucosa	Colon
49	chr3:146221600-146222000	Weak transcription	Fetal Intestine Small	intestine
50	chr3:146221600-146222000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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