Variant report

Variant	esv3462769
Chromosome Location	chr3:159180439-159183523
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549942209	chr3:159180499-159180500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140133695	chr3:159180514-159180515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538805405	chr3:159180527-159180528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554192933	chr3:159180543-159180544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527711019	chr3:159180584-159180585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181453885	chr3:159180591-159180592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1489920	chr3:159180640-159180641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1489921	chr3:159180660-159180661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116162817	chr3:159180700-159180701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564772602	chr3:159180713-159180714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576723868	chr3:159180725-159180726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185375739	chr3:159180732-159180733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540776671	chr3:159180787-159180788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145423234	chr3:159180824-159180825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527908619	chr3:159180844-159180845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543271666	chr3:159180928-159180929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540488808	chr3:159180984-159180985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189844576	chr3:159180998-159180999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539200524	chr3:159181023-159181024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369873372	chr3:159181068-159181069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550447583	chr3:159181069-159181070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571556308	chr3:159181070-159181071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532527643	chr3:159181071-159181072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149211161	chr3:159181079-159181080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539996159	chr3:159181080-159181081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571093691	chr3:159181163-159181164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11710233	chr3:159181179-159181180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs536315914	chr3:159181299-159181300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180890861	chr3:159181329-159181330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145117873	chr3:159181347-159181348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568633168	chr3:159181379-159181380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184960697	chr3:159181403-159181404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558807361	chr3:159181404-159181405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576799035	chr3:159181416-159181417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191967125	chr3:159181446-159181447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183883551	chr3:159181475-159181476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574600271	chr3:159181496-159181497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188550344	chr3:159181522-159181523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143494695	chr3:159181530-159181531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72428056	chr3:159181531-159181532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567805478	chr3:159181535-159181536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150115516	chr3:159181537-159181538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138878042	chr3:159181538-159181539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34792064	chr3:159181547-159181548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191850327	chr3:159181575-159181576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55890723	chr3:159182407-159182408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544351	chr3:159182419-159182420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543971745	chr3:159182436-159182437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565306341	chr3:159182462-159182463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560199685	chr3:159182463-159182464	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159177400-159181600	Weak transcription	Osteobl	bone
2	chr3:159182400-159183000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:159182400-159183000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:159182400-159183200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:159182400-159185200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:159183000-159184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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