Variant report

Variant	nsv9698
Chromosome Location	chr19:24355961-24357455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372363189	chr19:24355977-24355978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533528560	chr19:24355980-24355981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144400130	chr19:24356032-24356033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538738763	chr19:24356038-24356039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185705713	chr19:24356058-24356059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147122071	chr19:24356073-24356074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376961517	chr19:24356132-24356133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546739612	chr19:24356140-24356141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369132108	chr19:24356174-24356175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137893837	chr19:24356177-24356178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189444142	chr19:24356202-24356203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573977025	chr19:24356212-24356213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17687371	chr19:24356260-24356261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs553183330	chr19:24356278-24356279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577847439	chr19:24356304-24356305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10500224	chr19:24356307-24356308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs563369699	chr19:24356321-24356322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192357118	chr19:24356328-24356329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542597156	chr19:24356329-24356330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183828752	chr19:24356337-24356338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149044368	chr19:24356346-24356347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375004413	chr19:24356351-24356352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111826540	chr19:24356352-24356353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546822873	chr19:24356376-24356377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143077924	chr19:24356413-24356414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76139180	chr19:24356431-24356432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550797622	chr19:24356445-24356446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569296281	chr19:24356448-24356449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536292428	chr19:24356463-24356464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555057981	chr19:24356472-24356473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558750978	chr19:24356493-24356494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567597606	chr19:24356507-24356508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36082318	chr19:24356514-24356515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534899859	chr19:24356534-24356535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553271316	chr19:24356538-24356539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148221232	chr19:24356546-24356547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538785345	chr19:24356552-24356553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547337535	chr19:24356583-24356584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556818821	chr19:24356597-24356598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76489492	chr19:24356598-24356599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567034270	chr19:24356608-24356609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74431600	chr19:24356610-24356611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541257548	chr19:24356626-24356627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572468766	chr19:24356656-24356657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540544472	chr19:24356667-24356668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565190747	chr19:24356687-24356688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532607323	chr19:24356713-24356714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537753054	chr19:24356716-24356717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551146778	chr19:24356717-24356718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562890749	chr19:24356737-24356738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24337000-24359200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:24346000-24357200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:24346400-24357200	Weak transcription	Left Ventricle	heart
4	chr19:24347800-24357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:24354000-24356800	Weak transcription	Ovary	ovary
6	chr19:24354200-24356600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:24356600-24356800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:24356800-24357400	ZNF genes & repeats	Ovary	ovary
9	chr19:24357400-24360200	Weak transcription	Ovary	ovary

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