Variant report

Variant	esv3369003
Chromosome Location	chr19:21701297-21701726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113369734	chr19:21701304-21701305	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568848257	chr19:21701307-21701308	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553819374	chr19:21701349-21701350	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530014137	chr19:21701358-21701359	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8112278	chr19:21701366-21701367	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548148878	chr19:21701394-21701395	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562459675	chr19:21701395-21701396	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138801378	chr19:21701409-21701410	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189369849	chr19:21701423-21701424	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149361377	chr19:21701425-21701426	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7258901	chr19:21701504-21701505	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs367714567	chr19:21701511-21701512	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527414687	chr19:21701535-21701536	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542620545	chr19:21701553-21701554	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556214521	chr19:21701554-21701555	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575160061	chr19:21701595-21701596	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148280070	chr19:21701596-21701597	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554511656	chr19:21701604-21701605	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572757156	chr19:21701616-21701617	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181308604	chr19:21701635-21701636	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546855460	chr19:21701642-21701643	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186179405	chr19:21701650-21701651	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141316878	chr19:21701667-21701668	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74881281	chr19:21701718-21701719	ZNF genes & repeats Weak transcription Strong 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:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21689200-21702000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:21689200-21702000	Weak transcription	Stomach Mucosa	stomach
3	chr19:21689400-21701600	Weak transcription	Brain Substantia Nigra	brain
4	chr19:21689400-21701600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:21689400-21702000	Weak transcription	Left Ventricle	heart
6	chr19:21689400-21702000	Weak transcription	Right Ventricle	heart
7	chr19:21689600-21701400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr19:21689600-21701600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr19:21689600-21702000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:21690000-21701400	Weak transcription	Pancreas	Pancrea
11	chr19:21690000-21701600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:21690000-21701600	Weak transcription	Osteobl	bone
13	chr19:21690200-21701600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:21690200-21701600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr19:21690600-21701600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:21690600-21701600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:21691200-21701600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:21691200-21702000	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:21691400-21701600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:21691400-21702000	Weak transcription	Ovary	ovary
21	chr19:21692400-21701600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:21695000-21701400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:21695200-21701400	Weak transcription	Thymus	Thymus
24	chr19:21695200-21702000	Weak transcription	Spleen	Spleen
25	chr19:21695400-21701600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:21696800-21701600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:21696800-21702000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:21697000-21701400	Weak transcription	Gastric	stomach
29	chr19:21697000-21702000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:21698000-21702000	Weak transcription	Psoas Muscle	Psoas
31	chr19:21698400-21710800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:21698800-21701600	Weak transcription	Fetal Kidney	kidney
33	chr19:21699400-21705400	ZNF genes & repeats	Dnd41	blood
34	chr19:21699600-21707600	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr19:21699600-21720800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr19:21699600-21727600	ZNF genes & repeats	Liver	Liver
37	chr19:21700000-21701600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:21700200-21701600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr19:21700400-21701400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:21700600-21707800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
41	chr19:21700600-21707800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:21700800-21701600	Weak transcription	HSMM	muscle
43	chr19:21700800-21702000	Weak transcription	Brain Angular Gyrus	brain
44	chr19:21700800-21702000	Weak transcription	NH-A	brain
45	chr19:21700800-21702400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
46	chr19:21700800-21703400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:21700800-21704000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr19:21700800-21704400	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr19:21700800-21705400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr19:21700800-21706600	ZNF genes & repeats	Primary B cells from cord blood	blood

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