Variant report

Variant	esv13925
Chromosome Location	chr3:161918004-161920162
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	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572993851	chr3:161918069-161918070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs57374178	chr3:161918119-161918120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555223640	chr3:161918151-161918152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73032928	chr3:161918183-161918184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7609817	chr3:161918231-161918232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61705996	chr3:161918250-161918251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533341703	chr3:161918270-161918271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540963504	chr3:161918338-161918339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560832648	chr3:161918360-161918361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374648240	chr3:161918364-161918365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529512362	chr3:161918396-161918397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185736287	chr3:161918404-161918405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569312198	chr3:161918474-161918475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12496975	chr3:161918522-161918523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560920485	chr3:161918526-161918527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528110187	chr3:161918541-161918542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570142805	chr3:161918543-161918544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539036074	chr3:161918549-161918550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373364958	chr3:161918554-161918555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566602124	chr3:161918555-161918556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34556879	chr3:161918561-161918562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553037940	chr3:161918564-161918565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397737997	chr3:161918567-161918568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566761642	chr3:161918568-161918569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145120864	chr3:161918615-161918616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191968192	chr3:161918628-161918629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs58770211	chr3:161918633-161918634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs58541102	chr3:161918654-161918655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558266388	chr3:161918661-161918662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370998200	chr3:161918728-161918729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56296287	chr3:161918762-161918763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1387013	chr3:161918776-161918777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183651887	chr3:161918806-161918807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529602993	chr3:161918850-161918851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542918376	chr3:161918861-161918862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549438915	chr3:161918891-161918892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563120307	chr3:161918915-161918916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73032931	chr3:161918916-161918917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74872382	chr3:161918929-161918930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138990886	chr3:161918955-161918956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187642862	chr3:161918959-161918960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546584109	chr3:161918975-161918976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566306693	chr3:161919018-161919019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190770046	chr3:161919032-161919033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555349656	chr3:161919055-161919056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569104875	chr3:161919123-161919124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75049801	chr3:161919143-161919144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182390569	chr3:161919144-161919145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578149155	chr3:161919161-161919162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534247629	chr3:161919175-161919176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161911000-161919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:161918400-161920800	Weak transcription	NHDF-Ad	bronchial
3	chr3:161918600-161919200	Enhancers	Fetal Lung	lung
4	chr3:161919000-161919400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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