Variant report

Variant	esv3341529
Chromosome Location	chr3:159802235-159806612
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	chr3:159804455..159806862-chr3:159807790..159810359,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142457688	chr3:159802235-159802236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527970358	chr3:159802237-159802238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11927825	chr3:159802388-159802389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374808024	chr3:159802486-159802487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531726187	chr3:159802499-159802500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368979488	chr3:159802550-159802551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550256869	chr3:159802569-159802570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571669828	chr3:159802573-159802574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539080684	chr3:159802583-159802584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11920313	chr3:159802584-159802585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565866035	chr3:159802594-159802595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79088443	chr3:159802637-159802638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76072372	chr3:159802640-159802641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554485901	chr3:159802649-159802650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7623472	chr3:159802672-159802673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536753064	chr3:159802680-159802681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188823793	chr3:159802729-159802730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558279080	chr3:159802771-159802772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576521103	chr3:159802789-159802790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193222517	chr3:159802793-159802794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151317813	chr3:159802819-159802820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75042891	chr3:159802824-159802825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375251250	chr3:159802829-159802830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369517097	chr3:159802832-159802833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543270452	chr3:159802842-159802843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561331737	chr3:159802887-159802888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531892221	chr3:159802897-159802898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116520688	chr3:159802905-159802906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565416298	chr3:159802921-159802922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532632658	chr3:159802965-159802966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372944941	chr3:159802991-159802992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566033410	chr3:159802993-159802994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529955754	chr3:159803018-159803019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141776811	chr3:159803030-159803031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569849797	chr3:159803169-159803170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536887166	chr3:159803207-159803208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145586323	chr3:159803240-159803241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570241582	chr3:159803280-159803281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534385842	chr3:159803283-159803284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374985350	chr3:159803334-159803335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9842760	chr3:159803339-159803340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558494212	chr3:159803369-159803370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114797650	chr3:159803374-159803375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542953297	chr3:159803375-159803376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183533421	chr3:159803391-159803392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373087520	chr3:159803406-159803407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576796533	chr3:159803453-159803454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544060834	chr3:159803549-159803550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565453674	chr3:159803606-159803607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59671646	chr3:159803634-159803635	Weak transcription	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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	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
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159794400-159803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:159801000-159814600	Weak transcription	Gastric	stomach
3	chr3:159802000-159802600	Weak transcription	Esophagus	oesophagus
4	chr3:159802600-159802800	Enhancers	Esophagus	oesophagus
5	chr3:159802800-159803600	Enhancers	HMEC	breast
6	chr3:159802800-159808000	Weak transcription	Esophagus	oesophagus
7	chr3:159803000-159803600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:159806000-159807000	Enhancers	Liver	Liver
9	chr3:159806200-159807000	Enhancers	Pancreas	Pancrea

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