Variant report

Variant	esv3344596
Chromosome Location	chr19:36377107-36377672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570508803	chr19:36377145-36377146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12974695	chr19:36377167-36377168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71337513	chr19:36377171-36377172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71337514	chr19:36377173-36377174	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12974704	chr19:36377177-36377178	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12980804	chr19:36377185-36377186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12983538	chr19:36377191-36377192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12983549	chr19:36377193-36377194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12980811	chr19:36377201-36377202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71337515	chr19:36377205-36377206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71337516	chr19:36377207-36377208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71337517	chr19:36377210-36377211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71337518	chr19:36377212-36377213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71337519	chr19:36377214-36377215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71337520	chr19:36377217-36377218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12974946	chr19:36377221-36377222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71337521	chr19:36377237-36377238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71337522	chr19:36377239-36377240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71337523	chr19:36377242-36377243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12974968	chr19:36377246-36377247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12974978	chr19:36377253-36377254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12974981	chr19:36377255-36377256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12980867	chr19:36377270-36377271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12983629	chr19:36377276-36377277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67873481	chr19:36377277-36377278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528424345	chr19:36377287-36377288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113928285	chr19:36377306-36377307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75875150	chr19:36377319-36377320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183957773	chr19:36377393-36377394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546613020	chr19:36377398-36377399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148266395	chr19:36377411-36377412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535562789	chr19:36377449-36377450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557458751	chr19:36377452-36377453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113310989	chr19:36377501-36377502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549040698	chr19:36377518-36377519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112400286	chr19:36377531-36377532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558452967	chr19:36377572-36377573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573598591	chr19:36377580-36377581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113868905	chr19:36377592-36377593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535399163	chr19:36377599-36377600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574401339	chr19:36377602-36377603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534509444	chr19:36377633-36377634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113716547	chr19:36377642-36377643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113470100	chr19:36377648-36377649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529862175	chr19:36377649-36377650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112100490	chr19:36377665-36377666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pleomorphic liposarcoma	18784837	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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36360200-36379000	Weak transcription	Aorta	Aorta
2	chr19:36361000-36389000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:36361200-36389200	Weak transcription	Right Atrium	heart
4	chr19:36362400-36378200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:36362600-36378000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr19:36366000-36378200	Weak transcription	Gastric	stomach
7	chr19:36367800-36378400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:36370400-36377600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:36370400-36379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:36370400-36379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:36370600-36379000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:36370600-36379000	Weak transcription	NHDF-Ad	bronchial
13	chr19:36370600-36389000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:36370800-36377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:36370800-36377800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:36370800-36377800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:36370800-36377800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr19:36370800-36377800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:36370800-36377800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:36370800-36377800	Weak transcription	Adipose Nuclei	Adipose
21	chr19:36370800-36377800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr19:36370800-36377800	Weak transcription	Osteobl	bone
23	chr19:36370800-36378000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr19:36370800-36378000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:36370800-36378200	Weak transcription	Fetal Intestine Large	intestine
26	chr19:36370800-36378200	Weak transcription	Fetal Intestine Small	intestine
27	chr19:36370800-36378200	Weak transcription	Lung	lung
28	chr19:36370800-36378200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr19:36370800-36378400	Weak transcription	Placenta	Placenta
30	chr19:36370800-36378400	Weak transcription	GM12878-XiMat	blood
31	chr19:36370800-36378800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:36370800-36378800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:36370800-36378800	Weak transcription	Stomach Mucosa	stomach
34	chr19:36370800-36378800	Weak transcription	Dnd41	blood
35	chr19:36370800-36379000	Weak transcription	Liver	Liver
36	chr19:36370800-36379000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:36370800-36379000	Weak transcription	Fetal Lung	lung
38	chr19:36370800-36379400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:36370800-36389200	Weak transcription	HSMM	muscle
40	chr19:36370800-36389400	Weak transcription	HUVEC	blood vessel
41	chr19:36370800-36389400	Weak transcription	NH-A	brain
42	chr19:36371000-36377600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:36371000-36377800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr19:36371000-36377800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:36371000-36377800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:36371000-36377800	Weak transcription	Spleen	Spleen
47	chr19:36371000-36378000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:36371000-36378000	Weak transcription	Brain Anterior Caudate	brain
49	chr19:36371000-36378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr19:36371000-36378000	Weak transcription	Thymus	Thymus

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