Variant report

Variant	nsv519354
Chromosome Location	chr3:139619069-139621524
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	chr3:139611966..139613962-chr3:139618944..139620589,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 50 )

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	rs1426053	chr3:139619069-139619070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536550444	chr3:139619093-139619094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556869497	chr3:139619115-139619116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1426052	chr3:139619129-139619130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141555249	chr3:139619160-139619161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114547508	chr3:139619164-139619165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572565964	chr3:139619239-139619240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188978028	chr3:139619246-139619247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147089478	chr3:139619254-139619255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372911493	chr3:139619258-139619259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574728717	chr3:139619264-139619265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543372458	chr3:139619285-139619286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563206652	chr3:139619312-139619313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532205211	chr3:139619341-139619342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551951387	chr3:139619404-139619405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs982074	chr3:139619410-139619411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs528184281	chr3:139619540-139619541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548995937	chr3:139619549-139619550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548224771	chr3:139619595-139619596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568750090	chr3:139619606-139619607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13325448	chr3:139619662-139619663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143935299	chr3:139619736-139619737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181855644	chr3:139619737-139619738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570340501	chr3:139619793-139619794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539284284	chr3:139619895-139619896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs959555	chr3:139619896-139619897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540029952	chr3:139619934-139619935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147268550	chr3:139619944-139619945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139707212	chr3:139620009-139620010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373767456	chr3:139620029-139620030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555018935	chr3:139620061-139620062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185378238	chr3:139620098-139620099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543395232	chr3:139620103-139620104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528296094	chr3:139620104-139620105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556884817	chr3:139620119-139620120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576718127	chr3:139620123-139620124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201104184	chr3:139620175-139620176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149356274	chr3:139620186-139620187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374985148	chr3:139620193-139620194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148905988	chr3:139620224-139620225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559128110	chr3:139620244-139620245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6797611	chr3:139620305-139620306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541577340	chr3:139620308-139620309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76950745	chr3:139620325-139620326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117636298	chr3:139620394-139620395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6439885	chr3:139620397-139620398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112438709	chr3:139620429-139620430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10646971	chr3:139620430-139620431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398106505	chr3:139620431-139620432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7641960	chr3:139620432-139620433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139614400-139623800	Weak transcription	Ovary	ovary
2	chr3:139614400-139624600	Weak transcription	Pancreas	Pancrea
3	chr3:139621200-139621800	Enhancers	Placenta	Placenta

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