Variant report

Variant	rs56847962
Chromosome Location	chr3:119422501-119422502
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:119421136-119423363	SK-N-SH	brain:	n/a	n/a
2	MAZ	chr3:119421350-119422533	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119393569..119396281-chr3:119421855..119424087,2	MCF-7	breast:

Variant related genes	Relation type
MAATS1	TF binding region
ENSG00000138495	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1016086	0.82[EUR][1000 genomes]
rs4688031	0.82[EUR][1000 genomes]
rs4688034	0.82[EUR][1000 genomes]
rs4688037	0.82[EUR][1000 genomes]
rs9864160	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv591391	chr3:119403145-119442572	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119421200-119422600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:119421200-119422600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:119421200-119422600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr3:119421200-119422600	Enhancers	Fetal Heart	heart
5	chr3:119421200-119422600	Active TSS	Fetal Lung	lung
6	chr3:119421200-119422600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr3:119421200-119423200	Active TSS	Brain Anterior Caudate	brain
8	chr3:119421200-119423400	Active TSS	Ovary	ovary
9	chr3:119421400-119422600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr3:119421400-119422600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
11	chr3:119421400-119422600	Active TSS	Colonic Mucosa	Colon
12	chr3:119421400-119422600	Active TSS	Pancreas	Pancrea
13	chr3:119421400-119423000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:119421400-119423000	Active TSS	Fetal Kidney	kidney
15	chr3:119421400-119423200	Flanking Active TSS	Liver	Liver
16	chr3:119421400-119423200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr3:119421600-119422600	Active TSS	Brain Cingulate Gyrus	brain
18	chr3:119421600-119422800	Active TSS	Fetal Brain Female	brain
19	chr3:119421600-119423000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:119421600-119423000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr3:119421800-119422600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:119421800-119422600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:119421800-119422800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr3:119422000-119422600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:119422000-119422600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr3:119422000-119422600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:119422000-119422600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:119422000-119422600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:119422000-119422600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr3:119422000-119422600	Bivalent/Poised TSS	Osteobl	bone
31	chr3:119422000-119422800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr3:119422000-119422800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr3:119422000-119422800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr3:119422000-119422800	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr3:119422000-119422800	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr3:119422000-119423200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:119422200-119422600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr3:119422200-119422600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr3:119422200-119422600	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr3:119422200-119422600	Active TSS	Right Atrium	heart
41	chr3:119422200-119422600	Active TSS	A549	lung
42	chr3:119422200-119422800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
43	chr3:119422200-119422800	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr3:119422200-119422800	Active TSS	Fetal Brain Male	brain
45	chr3:119422200-119423000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr3:119422200-119458200	Weak transcription	Aorta	Aorta
47	chr3:119422400-119422600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr3:119422400-119422600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:119422400-119422600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
50	chr3:119422400-119422600	Enhancers	Primary B cells from peripheral blood	blood

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