Variant report

Variant	esv3352505
Chromosome Location	chr19:20163987-20164229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19886850..19889020-chr19:20162387..20164184,2	MCF-7	breast:
2	chr19:19886225..19889076-chr19:20160261..20164492,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266904	chromatin interactions
ENSG00000267419	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10408129	chr19:20164004-20164005	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148227816	chr19:20164021-20164022	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111870213	chr19:20164039-20164040	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12978985	chr19:20164048-20164049	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs568146859	chr19:20164061-20164062	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537123003	chr19:20164067-20164068	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557005304	chr19:20164077-20164078	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs187250818	chr19:20164116-20164117	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs192175449	chr19:20164145-20164146	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10409614	chr19:20164165-20164166	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs574293563	chr19:20164194-20164195	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs185374629	chr19:20164199-20164200	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12985869	chr19:20164203-20164204	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs34932344	chr19:20164220-20164221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20162000-20164000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:20162200-20164000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:20162200-20164000	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr19:20162200-20164000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:20162200-20164000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:20162200-20164000	Active TSS	Brain Germinal Matrix	brain
7	chr19:20162200-20164000	Active TSS	NHDF-Ad	bronchial
8	chr19:20162400-20164000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr19:20162400-20164000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr19:20162400-20164000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr19:20162400-20164000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:20162400-20164000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr19:20162600-20164000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:20162600-20164000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr19:20162600-20164000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:20162600-20164000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:20162600-20164200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:20162600-20164200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr19:20163200-20164000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr19:20163200-20164000	Flanking Active TSS	Liver	Liver
21	chr19:20163200-20164000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr19:20163200-20164000	Flanking Active TSS	Dnd41	blood
23	chr19:20163400-20164000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:20163400-20164000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:20163400-20164000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:20163400-20164000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:20163400-20164000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr19:20163400-20164000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr19:20163400-20164000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr19:20163400-20164000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:20163400-20164000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:20163400-20164000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:20163400-20164000	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr19:20163400-20164000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr19:20163400-20164000	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr19:20163400-20164000	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr19:20163400-20164000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr19:20163400-20164000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:20163400-20164000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr19:20163400-20164000	Flanking Active TSS	Fetal Heart	heart
41	chr19:20163400-20164000	Flanking Active TSS	Fetal Stomach	stomach
42	chr19:20163400-20164000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr19:20163400-20164000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr19:20163400-20164000	Flanking Active TSS	NHEK	skin
45	chr19:20163600-20164000	Flanking Active TSS	Fetal Brain Male	brain
46	chr19:20163600-20164000	Flanking Active TSS	Fetal Brain Female	brain
47	chr19:20163600-20164000	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr19:20163600-20164000	Enhancers	Spleen	Spleen
49	chr19:20163600-20164200	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr19:20163800-20164000	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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