Variant report

Variant	nsv1002279
Chromosome Location	chr3:162061779-162156743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162084506..162087458-chr3:162087812..162089576,2	MCF-7	breast:
2	chr3:162084506..162087458-chr3:162087812..162089576,2	MCF-7	breast:
3	chr3:162122033..162123865-chr3:162146680..162148744,2	K562	blood:
4	chr3:162122033..162123865-chr3:162146680..162148744,2	K562	blood:
5	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
6	chr3:162065911..162068435-chr3:162071341..162073387,2	K562	blood:
7	chr3:162065911..162068435-chr3:162071341..162073387,2	K562	blood:

Extended variants
information (count: 1304 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190899145	chr3:162066230-162066231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183273123	chr3:162066234-162066235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561927246	chr3:162066246-162066247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530667417	chr3:162066298-162066299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377157500	chr3:162066315-162066316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115196396	chr3:162066333-162066334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531387323	chr3:162066340-162066341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145116260	chr3:162066341-162066342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564039729	chr3:162066381-162066382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149142022	chr3:162066400-162066401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187324615	chr3:162066421-162066422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376829744	chr3:162066429-162066430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146495691	chr3:162066484-162066485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374678610	chr3:162066570-162066571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569438712	chr3:162066571-162066572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538121732	chr3:162066627-162066628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558013556	chr3:162066628-162066629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530298589	chr3:162066710-162066711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571634858	chr3:162066731-162066732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73155855	chr3:162066736-162066737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs554176469	chr3:162066747-162066748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574006986	chr3:162066748-162066749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543108121	chr3:162066777-162066778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190286275	chr3:162066811-162066812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561276206	chr3:162066838-162066839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182866884	chr3:162066840-162066841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568996530	chr3:162066877-162066878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13098156	chr3:162066894-162066895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544454866	chr3:162066899-162066900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564353775	chr3:162066939-162066940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13078243	chr3:162066953-162066954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540226002	chr3:162067053-162067054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560104067	chr3:162067071-162067072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528935549	chr3:162067075-162067076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549084176	chr3:162067081-162067082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143168472	chr3:162067092-162067093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187593631	chr3:162067098-162067099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531766627	chr3:162067099-162067100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561220611	chr3:162067114-162067115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192405663	chr3:162067173-162067174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147085703	chr3:162067283-162067284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534229062	chr3:162067314-162067315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553832346	chr3:162067372-162067373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567671163	chr3:162067399-162067400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148152624	chr3:162067428-162067429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556607461	chr3:162067444-162067445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141994718	chr3:162067499-162067500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544418954	chr3:162067504-162067505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375098214	chr3:162067515-162067516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571280788	chr3:162067548-162067549	Weak transcription	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:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162066200-162067000	Enhancers	Colon Smooth Muscle	Colon
2	chr3:162066600-162066800	Enhancers	Fetal Lung	lung
3	chr3:162066600-162067000	Enhancers	Stomach Smooth Muscle	stomach
4	chr3:162067000-162071200	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:162070800-162072000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:162070800-162072000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:162070800-162072000	Enhancers	Fetal Stomach	stomach
8	chr3:162071000-162072000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:162071000-162072400	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:162071200-162071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:162071200-162071800	Enhancers	Colon Smooth Muscle	Colon
12	chr3:162071200-162071800	Enhancers	HSMM	muscle
13	chr3:162071200-162072000	Enhancers	Dnd41	blood
14	chr3:162071200-162072200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:162071400-162071800	Enhancers	Fetal Kidney	kidney
16	chr3:162071800-162072600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:162082000-162082200	Enhancers	Rectal Smooth Muscle	rectum
18	chr3:162082000-162083400	Enhancers	Colon Smooth Muscle	Colon
19	chr3:162082200-162082400	Enhancers	Fetal Stomach	stomach
20	chr3:162082200-162083200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:162082400-162083200	Weak transcription	Fetal Stomach	stomach
22	chr3:162082600-162085000	Enhancers	Dnd41	blood
23	chr3:162082800-162088400	Enhancers	Fetal Heart	heart
24	chr3:162083200-162083400	Enhancers	Rectal Smooth Muscle	rectum
25	chr3:162083200-162083600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:162083200-162086400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:162083200-162087800	Enhancers	Fetal Stomach	stomach
28	chr3:162083400-162084000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:162083400-162084000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:162083400-162084400	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:162083600-162085600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:162083600-162086600	Enhancers	Fetal Lung	lung
33	chr3:162083800-162084200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:162083800-162086400	Enhancers	Fetal Kidney	kidney
35	chr3:162084000-162084600	Active TSS	NHLF	lung
36	chr3:162084000-162085600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:162084000-162087400	Enhancers	Rectal Smooth Muscle	rectum
38	chr3:162084200-162086000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:162084400-162087000	Enhancers	Colon Smooth Muscle	Colon
40	chr3:162084600-162085600	Weak transcription	NHLF	lung
41	chr3:162085000-162087200	Weak transcription	Dnd41	blood
42	chr3:162085200-162085400	Enhancers	Fetal Brain Male	brain
43	chr3:162085200-162086400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr3:162085400-162086000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:162085400-162086000	Weak transcription	Fetal Brain Male	brain
46	chr3:162085400-162086400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr3:162085400-162086400	Enhancers	Psoas Muscle	Psoas
48	chr3:162085600-162085800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr3:162085600-162086000	Enhancers	Brain Cingulate Gyrus	brain
50	chr3:162085600-162086000	Enhancers	Stomach Smooth Muscle	stomach

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