Variant report

Variant	esv2529347
Chromosome Location	chr3:162715664-162725330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4515074	chr3:162715708-162715709	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139573981	chr3:162715731-162715732	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539437330	chr3:162715747-162715748	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2362563	chr3:162715751-162715752	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546659830	chr3:162715803-162715804	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557689213	chr3:162715818-162715819	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572186118	chr3:162715839-162715840	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536053541	chr3:162715843-162715844	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149736588	chr3:162715860-162715861	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541010531	chr3:162715880-162715881	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs146763402	chr3:162715892-162715893	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557881184	chr3:162715919-162715920	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374255322	chr3:162715926-162715927	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs1038635	chr3:162715927-162715928	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140434401	chr3:162715945-162715946	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs1038634	chr3:162716004-162716005	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115187077	chr3:162716047-162716048	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574711571	chr3:162716062-162716063	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77196371	chr3:162716086-162716087	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs2019760	chr3:162716102-162716103	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575186806	chr3:162716106-162716107	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560419018	chr3:162716109-162716110	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs144971413	chr3:162716145-162716146	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs563960736	chr3:162716174-162716175	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532921735	chr3:162716188-162716189	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192075201	chr3:162716191-162716192	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs146800390	chr3:162716347-162716348	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs528949345	chr3:162716357-162716358	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74509296	chr3:162716390-162716391	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs115058262	chr3:162716394-162716395	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs531945328	chr3:162716404-162716405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187719706	chr3:162716405-162716406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571597753	chr3:162716412-162716413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534186086	chr3:162716453-162716454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553708108	chr3:162716473-162716474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567427110	chr3:162716483-162716484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1030362	chr3:162716492-162716493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs3085411	chr3:162716703-162716704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs5854010	chr3:162716704-162716705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1030363	chr3:162716705-162716706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35299086	chr3:162716717-162716718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564541774	chr3:162716725-162716726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555159721	chr3:162716780-162716781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148955050	chr3:162716795-162716796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531587528	chr3:162716839-162716840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34473082	chr3:162716901-162716902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529037578	chr3:162716902-162716903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397761837	chr3:162716909-162716910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558030836	chr3:162717002-162717003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577606444	chr3:162717055-162717056	Enhancers	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162715200-162716400	Flanking Active TSS	Dnd41	blood
2	chr3:162715400-162716000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:162715400-162716200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:162715400-162716200	Enhancers	Colon Smooth Muscle	Colon
5	chr3:162715400-162716200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr3:162715600-162715800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:162715600-162716000	Active TSS	Adipose Nuclei	Adipose
8	chr3:162715600-162716000	Active TSS	Aorta	Aorta
9	chr3:162715600-162716000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr3:162715600-162716000	Active TSS	Stomach Smooth Muscle	stomach
11	chr3:162715600-162716200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:162715600-162716200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr3:162715600-162716800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:162715800-162716000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:162715800-162716600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:162715800-162716600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:162716000-162716200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:162716000-162716200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:162716200-162716400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:162716200-162716600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr3:162716400-162718000	Enhancers	Dnd41	blood
22	chr3:162724800-162725600	Enhancers	Dnd41	blood

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