Variant report

Variant	esv3319219
Chromosome Location	chr19:36759300-36762050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575501655	chr19:36759301-36759302	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs562005494	chr19:36759305-36759306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs558555228	chr19:36759306-36759307	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs576743311	chr19:36759321-36759322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541170404	chr19:36759322-36759323	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs559177371	chr19:36759333-36759334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574695344	chr19:36759379-36759380	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541999288	chr19:36759400-36759401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369976602	chr19:36759416-36759417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530792075	chr19:36759436-36759437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552165099	chr19:36759447-36759448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564550255	chr19:36759453-36759454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528467221	chr19:36759457-36759458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75180694	chr19:36759463-36759464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76954289	chr19:36759469-36759470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568166964	chr19:36759474-36759475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529464088	chr19:36759486-36759487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550726448	chr19:36759488-36759489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530663194	chr19:36759491-36759492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550729176	chr19:36759495-36759496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569091793	chr19:36759499-36759500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539774656	chr19:36759504-36759505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113399496	chr19:36759516-36759517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112433058	chr19:36759536-36759537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534284750	chr19:36759545-36759546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62115201	chr19:36759565-36759566	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs574556718	chr19:36759576-36759577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542062758	chr19:36759579-36759580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557228592	chr19:36759586-36759587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575506008	chr19:36759653-36759654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113465861	chr19:36759676-36759677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190733034	chr19:36759726-36759727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546118327	chr19:36759729-36759730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182918989	chr19:36759734-36759735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373010920	chr19:36759775-36759776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112047636	chr19:36759785-36759786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62115202	chr19:36759789-36759790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62115203	chr19:36759863-36759864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62115204	chr19:36759946-36759947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78705421	chr19:36759955-36759956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75595622	chr19:36759996-36759997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373230015	chr19:36759999-36760000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528488971	chr19:36760187-36760188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62115205	chr19:36760334-36760335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561858948	chr19:36760367-36760368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138912831	chr19:36760378-36760379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550636776	chr19:36760396-36760397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62115206	chr19:36760401-36760402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569157404	chr19:36760416-36760417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139307040	chr19:36760436-36760437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36748800-36762800	Weak transcription	Right Atrium	heart
2	chr19:36749200-36762800	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:36749200-36764800	Weak transcription	Brain Substantia Nigra	brain
4	chr19:36749400-36762600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:36749400-36764200	Weak transcription	Brain Angular Gyrus	brain
6	chr19:36749600-36762600	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:36749600-36763400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:36749800-36760000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:36757000-36759400	ZNF genes & repeats	Placenta	Placenta
10	chr19:36757400-36762600	Weak transcription	Psoas Muscle	Psoas
11	chr19:36757600-36762600	Weak transcription	Right Ventricle	heart
12	chr19:36757800-36762800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:36758000-36762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:36758000-36762800	Weak transcription	Left Ventricle	heart
15	chr19:36758400-36762600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:36758400-36762800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:36758800-36762600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:36758800-36762600	Weak transcription	Gastric	stomach
19	chr19:36758800-36762600	Weak transcription	Ovary	ovary
20	chr19:36758800-36762800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:36759000-36762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:36759000-36762600	Weak transcription	Liver	Liver
23	chr19:36759000-36762600	Weak transcription	Esophagus	oesophagus
24	chr19:36759000-36762800	Weak transcription	Brain Anterior Caudate	brain
25	chr19:36759200-36759400	Weak transcription	Pancreas	Pancrea
26	chr19:36759200-36762000	Weak transcription	Fetal Brain Female	brain
27	chr19:36759400-36762600	Weak transcription	Placenta	Placenta
28	chr19:36760800-36764400	Weak transcription	HUVEC	blood vessel
29	chr19:36761400-36762600	Weak transcription	Pancreas	Pancrea
30	chr19:36762000-36763200	ZNF genes & repeats	Fetal Brain Female	brain

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