Variant report

Variant	nsv978817
Chromosome Location	chr19:41530217-41531640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41528977..41530590-chr19:41532130..41533740,2	K562	blood:

Variant related genes	Relation type
ENSG00000213908	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185714909	chr19:41530250-41530251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146666540	chr19:41530290-41530291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574279880	chr19:41530311-41530312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199593571	chr19:41530325-41530326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149210468	chr19:41530331-41530332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190472793	chr19:41530357-41530358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548016365	chr19:41530381-41530382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527360232	chr19:41530382-41530383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563887323	chr19:41530397-41530398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572800357	chr19:41530516-41530517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540327772	chr19:41530523-41530524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561800904	chr19:41530524-41530525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs530294783	chr19:41530526-41530527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12971357	chr19:41530587-41530588	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115773266	chr19:41530604-41530605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142465045	chr19:41530605-41530606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10401226	chr19:41530646-41530647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560727788	chr19:41530654-41530655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12971648	chr19:41530678-41530679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528504684	chr19:41530688-41530689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546676437	chr19:41530716-41530717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568245875	chr19:41530744-41530745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183454227	chr19:41530751-41530752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556704994	chr19:41530752-41530753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372069999	chr19:41530755-41530756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375591524	chr19:41530764-41530765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368635718	chr19:41530779-41530780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569044026	chr19:41530790-41530791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539309656	chr19:41530859-41530860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186268346	chr19:41530879-41530880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71358958	chr19:41530883-41530884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs151295740	chr19:41530884-41530885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191168054	chr19:41530913-41530914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573743543	chr19:41530927-41530928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544331710	chr19:41530929-41530930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182438606	chr19:41530941-41530942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568621293	chr19:41530952-41530953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546168805	chr19:41530975-41530976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34421950	chr19:41530980-41530981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528449909	chr19:41530990-41530991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546564080	chr19:41530992-41530993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111956898	chr19:41530998-41530999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529309525	chr19:41531008-41531009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34594610	chr19:41531038-41531039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568954684	chr19:41531079-41531080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539660382	chr19:41531097-41531098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397832852	chr19:41531139-41531140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1811584	chr19:41531146-41531147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371698621	chr19:41531154-41531155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534094260	chr19:41531164-41531165	Weak 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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41524600-41531800	Weak transcription	Liver	Liver
2	chr19:41529400-41531800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:41530200-41534000	Weak transcription	Right Atrium	heart
4	chr19:41531200-41531800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:41531400-41532000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:41531400-41532200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr19:41531600-41531800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:41531600-41531800	Bivalent Enhancer	Lung	lung
9	chr19:41531600-41532200	Bivalent Enhancer	Placenta	Placenta
10	chr19:41531600-41532400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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