Variant report

Variant	esv3416187
Chromosome Location	chr19:44071982-44072252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1978008	chr19:44072003-44072004	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3213285	chr19:44072013-44072014	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs200584352	chr19:44072028-44072029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71336880	chr19:44072029-44072030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532460815	chr19:44072033-44072034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538285277	chr19:44072069-44072070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552545501	chr19:44072100-44072101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375510689	chr19:44072105-44072106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528792974	chr19:44072119-44072120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368295591	chr19:44072120-44072121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548449708	chr19:44072131-44072132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34704825	chr19:44072176-44072177	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs537641134	chr19:44072216-44072217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44039200-44078600	Weak transcription	Hela-S3	cervix
2	chr19:44043800-44074000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:44048400-44078800	Weak transcription	Small Intestine	intestine
4	chr19:44057800-44078800	Weak transcription	HSMMtube	muscle
5	chr19:44058600-44078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:44059000-44076000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:44059200-44078800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:44059800-44078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:44062600-44076000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:44063400-44076200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:44065200-44078600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:44065400-44078600	Weak transcription	Ovary	ovary
13	chr19:44065400-44078800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:44065400-44078800	Weak transcription	Aorta	Aorta
15	chr19:44065800-44078600	Weak transcription	HSMM	muscle
16	chr19:44066000-44078600	Weak transcription	K562	blood
17	chr19:44066200-44078800	Weak transcription	Pancreas	Pancrea
18	chr19:44066600-44076200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:44066600-44078800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:44066800-44074000	Weak transcription	Stomach Mucosa	stomach
21	chr19:44067000-44078600	Weak transcription	Gastric	stomach
22	chr19:44067200-44075600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:44067200-44076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:44067200-44076200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:44067200-44078600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:44067200-44078600	Weak transcription	Fetal Kidney	kidney
27	chr19:44067400-44074000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:44067400-44074000	Weak transcription	NHEK	skin
29	chr19:44067400-44074800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:44067400-44075000	Weak transcription	Placenta	Placenta
31	chr19:44067400-44076000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:44067400-44076000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr19:44067400-44076200	Weak transcription	Brain Anterior Caudate	brain
34	chr19:44067400-44078600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:44067400-44078600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:44067400-44078600	Weak transcription	Liver	Liver
37	chr19:44067400-44078600	Weak transcription	Brain Substantia Nigra	brain
38	chr19:44067400-44078600	Weak transcription	Left Ventricle	heart
39	chr19:44067400-44078600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:44067400-44078600	Weak transcription	HUVEC	blood vessel
41	chr19:44067400-44078800	Weak transcription	Fetal Heart	heart
42	chr19:44067400-44078800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr19:44067400-44078800	Weak transcription	Right Ventricle	heart
44	chr19:44067600-44078800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:44067800-44072600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr19:44067800-44074800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:44067800-44075600	Weak transcription	NHLF	lung
48	chr19:44067800-44077600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:44067800-44078600	Weak transcription	Esophagus	oesophagus
50	chr19:44068000-44072200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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