Variant report

Variant	nsv592353
Chromosome Location	chr3:162704823-162721248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 423 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9870585	chr3:162704823-162704824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563961512	chr3:162704826-162704827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184032871	chr3:162704856-162704857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114550445	chr3:162704867-162704868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560185819	chr3:162704877-162704878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73027121	chr3:162704880-162704881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548713593	chr3:162704888-162704889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145927422	chr3:162704891-162704892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192336125	chr3:162704904-162704905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551469089	chr3:162704911-162704912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372518000	chr3:162704912-162704913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73027123	chr3:162704913-162704914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs377044915	chr3:162704927-162704928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548113547	chr3:162704936-162704937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567851296	chr3:162704960-162704961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536906866	chr3:162704987-162704988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9877940	chr3:162704994-162704995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9877942	chr3:162704998-162704999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558610358	chr3:162705005-162705006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577463590	chr3:162705027-162705028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182435372	chr3:162705037-162705038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113493085	chr3:162705061-162705062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9858129	chr3:162705063-162705064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573856243	chr3:162705076-162705077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554264720	chr3:162705110-162705111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187957119	chr3:162705152-162705153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562363096	chr3:162705159-162705160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531318993	chr3:162705164-162705165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9820405	chr3:162705185-162705186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs76719518	chr3:162705188-162705189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78721209	chr3:162705189-162705190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150197494	chr3:162705194-162705195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111725854	chr3:162705198-162705199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527926937	chr3:162705203-162705204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560878455	chr3:162705214-162705215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374669558	chr3:162705217-162705218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9820439	chr3:162705233-162705234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536566060	chr3:162705252-162705253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550414996	chr3:162705266-162705267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569748526	chr3:162705267-162705268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538645919	chr3:162705317-162705318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35535964	chr3:162705335-162705336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs572216444	chr3:162705337-162705338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535070245	chr3:162705379-162705380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191600783	chr3:162705381-162705382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112856517	chr3:162705387-162705388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9858617	chr3:162705393-162705394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9858618	chr3:162705398-162705399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150378400	chr3:162705417-162705418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564825220	chr3:162705430-162705431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162704800-162707800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:162710600-162710800	Enhancers	Dnd41	blood
3	chr3:162710800-162711000	Weak transcription	Dnd41	blood
4	chr3:162711000-162713600	ZNF genes & repeats	Dnd41	blood
5	chr3:162713600-162714400	Weak transcription	Dnd41	blood
6	chr3:162714400-162714800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:162714400-162715200	Enhancers	Dnd41	blood
8	chr3:162715200-162716400	Flanking Active TSS	Dnd41	blood
9	chr3:162715400-162716000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:162715400-162716200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:162715400-162716200	Enhancers	Colon Smooth Muscle	Colon
12	chr3:162715400-162716200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr3:162715600-162715800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:162715600-162716000	Active TSS	Adipose Nuclei	Adipose
15	chr3:162715600-162716000	Active TSS	Aorta	Aorta
16	chr3:162715600-162716000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr3:162715600-162716000	Active TSS	Stomach Smooth Muscle	stomach
18	chr3:162715600-162716200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:162715600-162716200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr3:162715600-162716800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:162715800-162716000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:162715800-162716600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:162715800-162716600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:162716000-162716200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:162716000-162716200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:162716200-162716400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:162716200-162716600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr3:162716400-162718000	Enhancers	Dnd41	blood

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