Variant report

Variant	rs547488234
Chromosome Location	chr3:119308211-119308212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119298069..119302115-chr3:119304955..119308560,6	MCF-7	breast:
2	chr3:119297063..119300617-chr3:119303800..119308221,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144843	Chromatin interaction
ENSG00000272967	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv3963	chr3:119301064-119345904	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv522542	chr3:119306930-119309260	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119299200-119314600	Weak transcription	Ovary	ovary
2	chr3:119299200-119315000	Weak transcription	Gastric	stomach
3	chr3:119299400-119314200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:119299400-119314400	Weak transcription	Brain Angular Gyrus	brain
5	chr3:119299600-119314200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:119299600-119314200	Weak transcription	Psoas Muscle	Psoas
7	chr3:119299800-119309200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:119299800-119314600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:119299800-119314600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:119299800-119318000	Weak transcription	Fetal Heart	heart
11	chr3:119303600-119308600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:119303600-119309800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:119304000-119308800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:119304800-119309000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:119305400-119314400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:119305600-119309400	Weak transcription	Fetal Stomach	stomach
17	chr3:119305600-119314200	Weak transcription	Lung	lung
18	chr3:119305600-119314200	Weak transcription	HSMMtube	muscle
19	chr3:119305800-119314600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:119306000-119316800	Weak transcription	Pancreas	Pancrea
21	chr3:119306200-119308800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr3:119306400-119308400	Enhancers	Primary B cells from peripheral blood	blood
23	chr3:119306600-119314200	Weak transcription	Right Ventricle	heart
24	chr3:119306800-119308600	Enhancers	Osteobl	bone
25	chr3:119307400-119308400	Enhancers	Fetal Thymus	thymus
26	chr3:119307400-119311200	Weak transcription	Placenta	Placenta
27	chr3:119307400-119314200	Weak transcription	Right Atrium	heart
28	chr3:119307600-119308400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:119307600-119308400	Strong transcription	Left Ventricle	heart
30	chr3:119307600-119308400	Genic enhancers	GM12878-XiMat	blood
31	chr3:119307600-119308800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr3:119307600-119309000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:119307600-119309000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:119307600-119309000	Weak transcription	Fetal Muscle Leg	muscle
35	chr3:119307600-119316400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:119307800-119308400	Weak transcription	Fetal Lung	lung
37	chr3:119307800-119308600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:119307800-119308800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:119307800-119309000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:119307800-119314400	Weak transcription	Adipose Nuclei	Adipose
41	chr3:119308000-119308400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:119308000-119308600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:119308000-119308800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:119308000-119308800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:119308000-119309000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:119308000-119309000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr3:119308000-119309200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:119308000-119309200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:119308000-119310200	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:119308200-119308400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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