Variant report

Variant	nsv965127
Chromosome Location	chr3:162071020-162073051
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: 58 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531944951	chr3:162071043-162071044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541850707	chr3:162071124-162071125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556460211	chr3:162071150-162071151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562125369	chr3:162071205-162071206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190136909	chr3:162071211-162071212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75320496	chr3:162071212-162071213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563109679	chr3:162071242-162071243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80313787	chr3:162071244-162071245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60913775	chr3:162071330-162071331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113358822	chr3:162071410-162071411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559385858	chr3:162071411-162071412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73035798	chr3:162071504-162071505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547827160	chr3:162071520-162071521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80182584	chr3:162071555-162071556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182729133	chr3:162071588-162071589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6763928	chr3:162071591-162071592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546456351	chr3:162071643-162071644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570587040	chr3:162071659-162071660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560290775	chr3:162071669-162071670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564965675	chr3:162071686-162071687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539640070	chr3:162071691-162071692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139553570	chr3:162071716-162071717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73035800	chr3:162071745-162071746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149719538	chr3:162071759-162071760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9811154	chr3:162071771-162071772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575254223	chr3:162071819-162071820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544233535	chr3:162071833-162071834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564219965	chr3:162071835-162071836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374748933	chr3:162071900-162071901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs397756680	chr3:162071907-162071908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116562600	chr3:162071924-162071925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545671755	chr3:162071925-162071926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559501864	chr3:162071969-162071970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546360091	chr3:162071971-162071972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375259239	chr3:162072022-162072023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186032768	chr3:162072026-162072027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560735931	chr3:162072113-162072114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542123282	chr3:162072124-162072125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6148167	chr3:162072132-162072133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs33993585	chr3:162072133-162072134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139677101	chr3:162072142-162072143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs5853972	chr3:162072150-162072151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370961692	chr3:162072151-162072152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374089388	chr3:162072152-162072153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376132909	chr3:162072153-162072154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370509937	chr3:162072157-162072158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531564427	chr3:162072225-162072226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369387269	chr3:162072273-162072274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2405741	chr3:162072275-162072276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs114278931	chr3:162072285-162072286	Enhancers	n/a	n/a	Overlapped CNVs	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162067000-162071200	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:162070800-162072000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:162070800-162072000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:162070800-162072000	Enhancers	Fetal Stomach	stomach
5	chr3:162071000-162072000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:162071000-162072400	Enhancers	Primary hematopoietic stem cells	blood
7	chr3:162071200-162071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:162071200-162071800	Enhancers	Colon Smooth Muscle	Colon
9	chr3:162071200-162071800	Enhancers	HSMM	muscle
10	chr3:162071200-162072000	Enhancers	Dnd41	blood
11	chr3:162071200-162072200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:162071400-162071800	Enhancers	Fetal Kidney	kidney
13	chr3:162071800-162072600	Enhancers	Muscle Satellite Cultured Cells	--

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