Variant report

Variant	rs512259
Chromosome Location	chr3:146221198-146221199
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr3:146210468..146212270-chr3:146218804..146221427,2	MCF-7	breast:
5	chr3:146220348..146223181-chr3:146248231..146251179,2	K562	blood:
6	chr3:146216120..146218147-chr3:146219212..146221539,2	K562	blood:
7	chr3:146220962..146225419-chr3:146230623..146236617,7	MCF-7	breast:
8	chr3:146139398..146141443-chr3:146220518..146223634,3	MCF-7	breast:
9	chr3:146100063..146100757-chr3:146220788..146221766,2	MCF-7	breast:
10	chr3:146219980..146222907-chr3:146245390..146248406,3	MCF-7	breast:
11	chr3:146219517..146222555-chr3:146227614..146231140,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188313	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11716510	0.94[EUR][1000 genomes]
rs11916950	0.96[EUR][1000 genomes]
rs13065970	0.94[EUR][1000 genomes]
rs3732746	0.84[EUR][1000 genomes]
rs4681327	0.91[ASN][1000 genomes]
rs474803	0.81[EUR][1000 genomes]
rs491900	0.98[EUR][1000 genomes]
rs498201	0.93[EUR][1000 genomes]
rs500995	0.91[EUR][1000 genomes]
rs512845	0.93[EUR][1000 genomes]
rs514287	0.92[EUR][1000 genomes]
rs536474	0.93[EUR][1000 genomes]
rs536737	0.92[EUR][1000 genomes]
rs544178	0.90[ASN][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146211400-146221200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:146214200-146235400	Weak transcription	Right Atrium	heart
3	chr3:146216000-146221800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:146216000-146232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:146216200-146221600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:146216200-146224000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:146216200-146230000	Weak transcription	Primary B cells from cord blood	blood
8	chr3:146216600-146230200	Weak transcription	Primary T cells from cord blood	blood
9	chr3:146218400-146232200	Weak transcription	Aorta	Aorta
10	chr3:146220200-146224200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr3:146220200-146230400	Weak transcription	Spleen	Spleen
12	chr3:146220400-146221200	Enhancers	A549	lung
13	chr3:146220400-146221200	Enhancers	HMEC	breast
14	chr3:146220400-146221400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:146220400-146221400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:146220400-146225600	Enhancers	NHDF-Ad	bronchial
17	chr3:146220600-146221400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:146220600-146221400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:146220600-146221400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:146220600-146222600	Enhancers	Stomach Mucosa	stomach
21	chr3:146220600-146223000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr3:146220600-146223000	Enhancers	K562	blood
23	chr3:146220600-146223600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:146220600-146225400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:146220600-146225600	Enhancers	Osteobl	bone
26	chr3:146220600-146226200	Enhancers	Hela-S3	cervix
27	chr3:146220800-146221200	Enhancers	GM12878-XiMat	blood
28	chr3:146220800-146221400	Enhancers	NH-A	brain
29	chr3:146220800-146221800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:146220800-146221800	Weak transcription	Esophagus	oesophagus
31	chr3:146220800-146223000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:146220800-146223000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:146220800-146225200	Weak transcription	Pancreas	Pancrea
34	chr3:146220800-146225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:146220800-146225600	Enhancers	HSMM	muscle
36	chr3:146220800-146225800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:146220800-146225800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr3:146220800-146226000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:146220800-146226200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:146221000-146221600	Enhancers	Fetal Intestine Small	intestine
41	chr3:146221000-146221800	Flanking Active TSS	NHEK	skin
42	chr3:146221000-146225000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:146221000-146225400	Enhancers	NHLF	lung
44	chr3:146221000-146226000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:146221000-146226400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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