Variant report

Variant	esv1820130
Chromosome Location	chr3:164118356-164125798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 212 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs571333302	chr3:164118807-164118808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs533918427	chr3:164118824-164118825	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181932801	chr3:164118869-164118870	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185264222	chr3:164118889-164118890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs9835203	chr3:164118893-164118894	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575878171	chr3:164118899-164118900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556443180	chr3:164118900-164118901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs34592962	chr3:164118910-164118911	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545764813	chr3:164118948-164118949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs9835359	chr3:164118953-164118954	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527297664	chr3:164118971-164118972	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372165333	chr3:164119027-164119028	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540638710	chr3:164119028-164119029	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561039057	chr3:164119038-164119039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529711767	chr3:164119057-164119058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549838470	chr3:164119067-164119068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569561450	chr3:164119092-164119093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs9855296	chr3:164119093-164119094	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540738532	chr3:164119144-164119145	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552089741	chr3:164119145-164119146	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565605043	chr3:164119182-164119183	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189670488	chr3:164119195-164119196	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551237937	chr3:164119197-164119198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs181302112	chr3:164119198-164119199	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567762162	chr3:164119204-164119205	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs536389460	chr3:164119217-164119218	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556618013	chr3:164119224-164119225	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs9873142	chr3:164119265-164119266	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371172534	chr3:164119270-164119271	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs9835558	chr3:164119278-164119279	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572728299	chr3:164119306-164119307	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541027525	chr3:164119328-164119329	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560761886	chr3:164119342-164119343	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs142935531	chr3:164119392-164119393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs9835718	chr3:164119395-164119396	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183355951	chr3:164120603-164120604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368916761	chr3:164120608-164120609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186929860	chr3:164120648-164120649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs66949604	chr3:164120652-164120653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79012437	chr3:164120695-164120696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555574990	chr3:164120700-164120701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115567820	chr3:164120740-164120741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544546391	chr3:164120742-164120743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140801885	chr3:164120744-164120745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567145903	chr3:164120756-164120757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375831836	chr3:164120822-164120823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532564402	chr3:164120830-164120831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546190450	chr3:164120862-164120863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548580297	chr3:164120935-164120936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559596841	chr3:164120951-164120952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164118800-164119400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:164118800-164119400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:164120600-164123000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:164122000-164122400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:164122000-164122400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:164124000-164124200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:164124200-164125400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr3:164124200-164126000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr3:164125200-164126200	Enhancers	Colon Smooth Muscle	Colon

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