Variant report

Variant	rs532163814
Chromosome Location	chr3:49978977-49978978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
2	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
3	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:
4	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
5	chr3:49823173..49825666-chr3:49976602..49979269,2	MCF-7	breast:
6	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:
7	chr3:49978223..49979811-chr3:50003793..50005372,2	K562	blood:

Variant related genes	Relation type
ENSG00000003756	Chromatin interaction
ENSG00000176095	Chromatin interaction
ENSG00000164077	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49977000-49979000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr3:49977200-49979000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:49977400-49979000	Active TSS	Muscle Satellite Cultured Cells	--
4	chr3:49977400-49979000	Active TSS	HSMM	muscle
5	chr3:49977400-49979000	Active TSS	NHDF-Ad	bronchial
6	chr3:49977400-49979200	Active TSS	GM12878-XiMat	blood
7	chr3:49977800-49979400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:49978000-49979000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:49978000-49979000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr3:49978200-49979000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:49978200-49979000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:49978200-49979000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:49978200-49979000	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr3:49978200-49979000	Flanking Active TSS	Fetal Brain Female	brain
15	chr3:49978200-49979000	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr3:49978200-49979000	Enhancers	Spleen	Spleen
17	chr3:49978200-49979000	Flanking Active TSS	Dnd41	blood
18	chr3:49978400-49979000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:49978400-49979000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:49978400-49979000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:49978400-49979000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:49978400-49979000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr3:49978400-49979000	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr3:49978400-49979000	Enhancers	Gastric	stomach
25	chr3:49978400-49979000	Flanking Active TSS	NHEK	skin
26	chr3:49978400-49979000	Flanking Active TSS	NHLF	lung
27	chr3:49978600-49979000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:49978600-49979000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr3:49978600-49979000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:49978600-49979000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr3:49978600-49979000	Enhancers	Colonic Mucosa	Colon
32	chr3:49978600-49979000	Enhancers	Esophagus	oesophagus
33	chr3:49978600-49979000	Enhancers	Fetal Heart	heart
34	chr3:49978600-49979000	Enhancers	Pancreas	Pancrea
35	chr3:49978600-49979200	Weak transcription	Ovary	ovary
36	chr3:49978600-49979400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:49978600-49979400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr3:49978600-49980200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr3:49978600-49980600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr3:49978600-49980600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:49978600-49981200	Enhancers	Primary B cells from peripheral blood	blood
42	chr3:49978600-49981800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:49978600-49983000	Weak transcription	Lung	lung
44	chr3:49978600-49986400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:49978600-49986800	Weak transcription	Left Ventricle	heart
46	chr3:49978600-49988800	Weak transcription	Aorta	Aorta
47	chr3:49978800-49979000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:49978800-49979000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:49978800-49979000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr3:49978800-49979000	Enhancers	Primary T cells from cord blood	blood

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