Variant report

Variant	rs376644547
Chromosome Location	chr3:160218772-160218773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160204576..160208180-chr3:160214688..160218928,3	MCF-7	breast:
2	chr3:160209467..160214464-chr3:160215473..160219309,5	K562	blood:
3	chr3:160209082..160210967-chr3:160217809..160219865,2	K562	blood:
4	chr3:160216490..160219028-chr3:160268486..160271353,2	K562	blood:
5	chr3:160214963..160217572-chr3:160217602..160219755,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers 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 miRNA target site	255 gene(s)	inside rSNPs	diseases
7	esv1801686	chr3:160089896-160248363	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	211 gene(s)	inside rSNPs	diseases
8	esv1797113	chr3:160217483-160245980	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv963372	chr3:160218056-160219348	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160204000-160219000	Weak transcription	Lung	lung
2	chr3:160204000-160219000	Weak transcription	Thymus	Thymus
3	chr3:160204000-160224000	Weak transcription	Gastric	stomach
4	chr3:160204000-160238200	Weak transcription	Small Intestine	intestine
5	chr3:160204200-160218800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:160204200-160218800	Weak transcription	Fetal Intestine Large	intestine
7	chr3:160204200-160219000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:160204200-160219000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:160204200-160219000	Weak transcription	NHEK	skin
10	chr3:160204200-160219200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:160204200-160219200	Weak transcription	Aorta	Aorta
12	chr3:160204200-160219200	Weak transcription	Left Ventricle	heart
13	chr3:160204200-160219400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:160204200-160224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:160204200-160224800	Weak transcription	GM12878-XiMat	blood
16	chr3:160204200-160225400	Weak transcription	Fetal Kidney	kidney
17	chr3:160209200-160219200	Weak transcription	Fetal Stomach	stomach
18	chr3:160210200-160219000	Weak transcription	Brain Anterior Caudate	brain
19	chr3:160210600-160219200	Weak transcription	Fetal Lung	lung
20	chr3:160212000-160220400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:160212400-160219200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr3:160213000-160218800	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:160213000-160219200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:160213000-160220200	Weak transcription	Fetal Intestine Small	intestine
25	chr3:160213000-160228600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:160213200-160219200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:160213200-160219200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:160213200-160222800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr3:160213400-160219200	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:160213600-160223800	Weak transcription	Psoas Muscle	Psoas
31	chr3:160214000-160219200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr3:160214600-160218800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:160214600-160219200	Weak transcription	Fetal Brain Female	brain
34	chr3:160214800-160219200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:160214800-160219200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:160215000-160219200	Weak transcription	Ovary	ovary
37	chr3:160215000-160225400	Weak transcription	Fetal Heart	heart
38	chr3:160215200-160219000	Weak transcription	K562	blood
39	chr3:160215600-160219000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:160215600-160228200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:160215600-160254200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr3:160215800-160221800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr3:160215800-160222800	Strong transcription	Fetal Thymus	thymus
44	chr3:160215800-160223400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:160215800-160227400	Strong transcription	Primary B cells from cord blood	blood
46	chr3:160215800-160227800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:160215800-160227800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:160215800-160227800	Strong transcription	NHDF-Ad	bronchial
49	chr3:160215800-160228200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:160215800-160254000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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