Variant report

Variant	nsv592643
Chromosome Location	chr3:178550246-178553756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178543542..178551305-chr3:178552157..178562303,11	MCF-7	breast:
2	chr3:178545028..178546976-chr3:178549794..178552747,2	K562	blood:
3	chr3:178543542..178551305-chr3:178552157..178562303,11	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144748329	chr3:178550303-178550304	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185242935	chr3:178550337-178550338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529432838	chr3:178550405-178550406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190080141	chr3:178550491-178550492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111674010	chr3:178550501-178550502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558123573	chr3:178550515-178550516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4342088	chr3:178550583-178550584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11711057	chr3:178550699-178550700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148120215	chr3:178550750-178550751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142732413	chr3:178550766-178550767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368954858	chr3:178550866-178550867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371506517	chr3:178550868-178550869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181290450	chr3:178550869-178550870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377425000	chr3:178550870-178550871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374243725	chr3:178550871-178550872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186756307	chr3:178550938-178550939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376117212	chr3:178551002-178551003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540952811	chr3:178551114-178551115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77275514	chr3:178551125-178551126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146063700	chr3:178551143-178551144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188646417	chr3:178551150-178551151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115468548	chr3:178551240-178551241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34262084	chr3:178551241-178551242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562210800	chr3:178551259-178551260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180966376	chr3:178551342-178551343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367961565	chr3:178551343-178551344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541014055	chr3:178551344-178551345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564468515	chr3:178551397-178551398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368728926	chr3:178551453-178551454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533467639	chr3:178551480-178551481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550028985	chr3:178551486-178551487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577440949	chr3:178551504-178551505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570165070	chr3:178551509-178551510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529441017	chr3:178551549-178551550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543168589	chr3:178551555-178551556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9877109	chr3:178551573-178551574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185199588	chr3:178551609-178551610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534637932	chr3:178551611-178551612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557762879	chr3:178551613-178551614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4499576	chr3:178551616-178551617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537356868	chr3:178551622-178551623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557178301	chr3:178551663-178551664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573803218	chr3:178551682-178551683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536439054	chr3:178551691-178551692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9839672	chr3:178551697-178551698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374721718	chr3:178551768-178551769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4498018	chr3:178551778-178551779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541099693	chr3:178551800-178551801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141894496	chr3:178551834-178551835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577576956	chr3:178551856-178551857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178541200-178558400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:178541800-178550600	Weak transcription	Fetal Kidney	kidney
3	chr3:178542000-178563600	Weak transcription	Aorta	Aorta
4	chr3:178543600-178551200	Weak transcription	Ovary	ovary
5	chr3:178545200-178557800	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:178546400-178563000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:178547800-178550400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr3:178550400-178562800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:178552600-178554000	Enhancers	GM12878-XiMat	blood

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