Variant report

Variant	rs3789059
Chromosome Location	chr2:111921152-111921153
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	chr2:111919430..111921560-chr2:111931169..111932920,2	K562	blood:
2	chr2:111920226..111922098-chr2:111925497..111926999,2	MCF-7	breast:
3	chr2:111905324..111908046-chr2:111920728..111922506,2	K562	blood:
4	chr2:111893690..111895905-chr2:111918348..111921261,2	MCF-7	breast:
5	chr2:111877563..111879797-chr2:111919058..111921788,3	MCF-7	breast:
6	chr2:111905205..111908035-chr2:111918742..111922228,4	K562	blood:
7	chr2:111920278..111923982-chr2:111925821..111929846,4	K562	blood:
8	chr2:111920423..111923339-chr2:111955023..111956817,2	MCF-7	breast:
9	chr2:111915696..111917657-chr2:111917984..111921314,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12613243	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs12615741	0.93[ASN][1000 genomes]
rs17041868	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2289321	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs3761706	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs3789066	0.92[ASN][1000 genomes]
rs3789067	0.92[ASN][1000 genomes]
rs61484463	0.96[ASN][1000 genomes]
rs72948328	0.84[ASN][1000 genomes]
rs73954922	0.80[ASN][1000 genomes]
rs73954941	0.84[ASN][1000 genomes]
rs73954943	0.84[ASN][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111884800-111925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:111906600-111927000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:111909600-111922600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:111910000-111925200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:111910200-111922800	Weak transcription	Aorta	Aorta
6	chr2:111910400-111922400	Weak transcription	Ovary	ovary
7	chr2:111914600-111921400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:111914600-111921400	Genic enhancers	Liver	Liver
9	chr2:111915200-111925600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:111915600-111925400	Strong transcription	Dnd41	blood
11	chr2:111916000-111923600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:111916000-111925800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:111916600-111921200	Enhancers	Right Atrium	heart
14	chr2:111916600-111921400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:111916800-111923200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:111917000-111925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:111917200-111925000	Weak transcription	Hela-S3	cervix
18	chr2:111917400-111921400	Enhancers	NHLF	lung
19	chr2:111918200-111921600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:111918400-111921200	Enhancers	Brain Germinal Matrix	brain
21	chr2:111919000-111922600	Weak transcription	NHEK	skin
22	chr2:111919000-111923400	Strong transcription	Primary B cells from cord blood	blood
23	chr2:111919200-111921200	Enhancers	Gastric	stomach
24	chr2:111919200-111921200	Enhancers	Pancreas	Pancrea
25	chr2:111919200-111921200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:111919200-111921200	Genic enhancers	Thymus	Thymus
27	chr2:111919200-111921200	Weak transcription	A549	lung
28	chr2:111919200-111921400	Genic enhancers	Fetal Intestine Small	intestine
29	chr2:111919200-111925000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:111919200-111925400	Weak transcription	HMEC	breast
31	chr2:111919400-111921800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:111919400-111922200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:111919400-111922200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:111919400-111922400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:111919400-111922400	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:111919400-111925600	Weak transcription	Osteobl	bone
37	chr2:111919600-111921200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:111919600-111921200	Enhancers	GM12878-XiMat	blood
39	chr2:111919600-111921400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:111919600-111921400	Enhancers	Small Intestine	intestine
41	chr2:111919600-111922400	Weak transcription	NHDF-Ad	bronchial
42	chr2:111919600-111922600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:111919600-111922600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:111919600-111923800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:111919600-111926800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:111919800-111921200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:111919800-111921400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:111919800-111921800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:111919800-111922200	Weak transcription	Adipose Nuclei	Adipose
50	chr2:111919800-111922800	Weak transcription	Colonic Mucosa	Colon

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