Variant report

Variant	esv6839
Chromosome Location	chr19:21716963-21717472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386807800	chr19:21717003-21717004	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs8111788	chr19:21717031-21717032	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs201761946	chr19:21717036-21717037	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142074031	chr19:21717043-21717044	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539360047	chr19:21717045-21717046	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145819702	chr19:21717083-21717084	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569995487	chr19:21717101-21717102	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529083096	chr19:21717109-21717110	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191661383	chr19:21717115-21717116	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555477589	chr19:21717133-21717134	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138718792	chr19:21717154-21717155	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34163376	chr19:21717171-21717172	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541201381	chr19:21717254-21717255	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553168120	chr19:21717275-21717276	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549226062	chr19:21717353-21717354	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21699600-21720800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:21699600-21727600	ZNF genes & repeats	Liver	Liver
3	chr19:21701000-21733400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:21701600-21720400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:21702400-21721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21702600-21717200	Weak transcription	Psoas Muscle	Psoas
7	chr19:21702800-21717200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:21702800-21718600	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:21702800-21718600	Weak transcription	Fetal Heart	heart
10	chr19:21704000-21717200	Weak transcription	NHDF-Ad	bronchial
11	chr19:21705000-21718600	Weak transcription	HSMM	muscle
12	chr19:21706400-21717200	Weak transcription	K562	blood
13	chr19:21707000-21719000	Weak transcription	Stomach Mucosa	stomach
14	chr19:21708200-21717400	Strong transcription	Placenta	Placenta
15	chr19:21709000-21722800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:21709600-21717200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:21710600-21717200	Weak transcription	NH-A	brain
18	chr19:21711600-21720400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr19:21711800-21717400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:21712000-21719200	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:21712400-21720400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
22	chr19:21712600-21720200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr19:21713200-21717200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr19:21713400-21717200	Strong transcription	Brain Angular Gyrus	brain
25	chr19:21713400-21717400	Strong transcription	Brain Germinal Matrix	brain
26	chr19:21713400-21719600	Strong transcription	Ovary	ovary
27	chr19:21713400-21720200	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr19:21713400-21720400	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:21713400-21720800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:21713400-21720800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:21713400-21721800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:21713400-21722000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr19:21713400-21722800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:21713800-21717000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr19:21714200-21717200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:21714200-21717200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr19:21714200-21717200	Weak transcription	Gastric	stomach
38	chr19:21714200-21717200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:21714200-21717200	Weak transcription	Spleen	Spleen
40	chr19:21714200-21717200	Weak transcription	HSMMtube	muscle
41	chr19:21714200-21717400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:21714200-21718600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr19:21714200-21718600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:21714200-21721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:21714400-21717200	Weak transcription	Primary T cells from cord blood	blood
46	chr19:21714400-21717200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:21714400-21717400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:21714400-21718400	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:21714400-21718800	Weak transcription	Brain Substantia Nigra	brain
50	chr19:21714400-21719000	Weak transcription	Rectal Smooth Muscle	rectum

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