Variant report

Variant	esv21344
Chromosome Location	chr3:162129709-162143255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 265 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572377865	chr3:162129711-162129712	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368380381	chr3:162129788-162129789	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541009994	chr3:162129818-162129819	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs188415717	chr3:162129957-162129958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4856682	chr3:162129993-162129994	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140716727	chr3:162137143-162137144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574257873	chr3:162137153-162137154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144555204	chr3:162137163-162137164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549858940	chr3:162137187-162137188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570119032	chr3:162137190-162137191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369787891	chr3:162137225-162137226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558758413	chr3:162137238-162137239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182796058	chr3:162137297-162137298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6789202	chr3:162137300-162137301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115244419	chr3:162137312-162137313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574784051	chr3:162137316-162137317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543517080	chr3:162137321-162137322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557450223	chr3:162137335-162137336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556968378	chr3:162137369-162137370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140714070	chr3:162137372-162137373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12639087	chr3:162137425-162137426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs6764843	chr3:162137428-162137429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10936280	chr3:162137470-162137471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186006498	chr3:162137514-162137515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529710883	chr3:162137537-162137538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61422515	chr3:162137566-162137567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10936281	chr3:162137582-162137583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532113371	chr3:162137653-162137654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150107181	chr3:162137692-162137693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190821021	chr3:162137696-162137697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530953336	chr3:162137734-162137735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565934533	chr3:162137767-162137768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183328327	chr3:162137768-162137769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7648533	chr3:162137783-162137784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116499735	chr3:162137799-162137800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75715861	chr3:162137811-162137812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557112351	chr3:162137824-162137825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577407498	chr3:162137834-162137835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539987392	chr3:162137860-162137861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138477580	chr3:162137869-162137870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200100789	chr3:162137894-162137895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572280799	chr3:162137908-162137909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200151934	chr3:162137941-162137942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541299804	chr3:162138075-162138076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561260115	chr3:162138095-162138096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188884513	chr3:162138123-162138124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141264945	chr3:162138125-162138126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563182172	chr3:162138126-162138127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532030498	chr3:162138149-162138150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111886562	chr3:162138197-162138198	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162129400-162129800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr3:162129400-162130000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:162129400-162130000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr3:162129600-162130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr3:162137000-162147000	Weak transcription	H9 Cell Line	embryonic stem cell

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