Variant report

Variant	nsv965347
Chromosome Location	chr3:162051202-162066827
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	chr3:162065911..162068435-chr3:162071341..162073387,2	K562	blood:

Extended variants
information (count: 237 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560451018	chr3:162052205-162052206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575120602	chr3:162052210-162052211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529271698	chr3:162052229-162052230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144910300	chr3:162052232-162052233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562629327	chr3:162052287-162052288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs531720658	chr3:162052298-162052299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs550747338	chr3:162052316-162052317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs570594089	chr3:162052319-162052320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs7616452	chr3:162052320-162052321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533210248	chr3:162052345-162052346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116771671	chr3:162052371-162052372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs369960743	chr3:162052383-162052384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs117324980	chr3:162052406-162052407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35056055	chr3:162052413-162052414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs535458327	chr3:162052430-162052431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75728770	chr3:162052458-162052459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs543938735	chr3:162052461-162052462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529778868	chr3:162052597-162052598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568950742	chr3:162052598-162052599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555746206	chr3:162052600-162052601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377049434	chr3:162052603-162052604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs537585277	chr3:162052619-162052620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532446251	chr3:162052641-162052642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs561826973	chr3:162052644-162052645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558290675	chr3:162052650-162052651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575893507	chr3:162052713-162052714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540892655	chr3:162052715-162052716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs7651879	chr3:162052769-162052770	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373251287	chr3:162052790-162052791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574032068	chr3:162052809-162052810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376529099	chr3:162052828-162052829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs561673740	chr3:162052848-162052849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562591240	chr3:162052890-162052891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200799811	chr3:162052906-162052907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545178412	chr3:162052932-162052933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375857060	chr3:162052949-162052950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs564257060	chr3:162053051-162053052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28656965	chr3:162053052-162053053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147539804	chr3:162053075-162053076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547349005	chr3:162053089-162053090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546838546	chr3:162053143-162053144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565947118	chr3:162053161-162053162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28542283	chr3:162053208-162053209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13100767	chr3:162053213-162053214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548994982	chr3:162053228-162053229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367964101	chr3:162053322-162053323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187598561	chr3:162053381-162053382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368437141	chr3:162053425-162053426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113841424	chr3:162053444-162053445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13058762	chr3:162053479-162053480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162052200-162053000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:162052400-162053000	ZNF genes & repeats	Dnd41	blood
3	chr3:162052600-162053000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:162053000-162056000	Weak transcription	Dnd41	blood
5	chr3:162055200-162057000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:162055400-162057000	Enhancers	HSMM	muscle
7	chr3:162056000-162057200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:162056000-162057200	Enhancers	Dnd41	blood
9	chr3:162056200-162056800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:162056600-162057000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:162059200-162060000	Enhancers	Dnd41	blood
12	chr3:162066200-162067000	Enhancers	Colon Smooth Muscle	Colon
13	chr3:162066600-162066800	Enhancers	Fetal Lung	lung
14	chr3:162066600-162067000	Enhancers	Stomach Smooth Muscle	stomach

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