Variant report

Variant	esv3463821
Chromosome Location	chr3:162211858-162216856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:162215860..162218810-chr3:162234701..162237384,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56806422	chr3:162211871-162211872	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565778380	chr3:162211879-162211880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144829393	chr3:162211880-162211881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561527322	chr3:162211882-162211883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530585756	chr3:162211921-162211922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575214409	chr3:162211985-162211986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578021255	chr3:162212002-162212003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147907463	chr3:162212009-162212010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545345884	chr3:162212014-162212015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191266423	chr3:162212016-162212017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141681966	chr3:162212067-162212068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546806794	chr3:162212128-162212129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566797105	chr3:162212159-162212160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537792987	chr3:162212162-162212163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555695872	chr3:162212176-162212177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569199286	chr3:162212198-162212199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538335882	chr3:162212210-162212211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147082354	chr3:162212263-162212264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111807077	chr3:162212282-162212283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577093944	chr3:162212306-162212307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545984961	chr3:162212334-162212335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183536845	chr3:162212337-162212338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7632374	chr3:162212381-162212382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541766812	chr3:162212388-162212389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561714335	chr3:162212436-162212437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530469070	chr3:162212485-162212486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543880398	chr3:162212511-162212512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563805106	chr3:162212530-162212531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563243383	chr3:162212611-162212612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530533313	chr3:162212617-162212618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532887406	chr3:162212627-162212628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546742505	chr3:162212697-162212698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566961767	chr3:162212758-162212759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7646771	chr3:162212831-162212832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549461483	chr3:162212947-162212948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560858061	chr3:162212951-162212952	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
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
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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162204800-162213000	Weak transcription	Dnd41	blood
2	chr3:162210600-162212000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:162211200-162212000	Enhancers	Muscle Satellite Cultured Cells	--

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