Variant report

Variant	nsv967203
Chromosome Location	chr3:146502599-146511951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560005185	chr3:146502619-146502620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527247074	chr3:146502620-146502621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540647853	chr3:146502635-146502636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568369496	chr3:146502673-146502674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563806966	chr3:146502715-146502716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532850646	chr3:146502781-146502782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549495816	chr3:146502787-146502788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114116591	chr3:146502795-146502796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189684678	chr3:146502857-146502858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369370037	chr3:146502932-146502933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565965746	chr3:146502954-146502955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534985916	chr3:146502978-146502979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78802825	chr3:146503034-146503035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571701348	chr3:146503052-146503053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375717905	chr3:146503063-146503064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576120102	chr3:146503094-146503095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557475091	chr3:146503141-146503142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3843364	chr3:146503157-146503158	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs144276067	chr3:146503188-146503189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536857458	chr3:146503219-146503220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59610515	chr3:146503220-146503221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553363616	chr3:146503229-146503230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573497449	chr3:146503230-146503231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552121595	chr3:146503259-146503260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184239295	chr3:146503268-146503269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563719602	chr3:146503332-146503333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577268811	chr3:146503347-146503348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543101543	chr3:146503359-146503360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188689623	chr3:146503371-146503372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112791782	chr3:146503384-146503385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529031370	chr3:146503394-146503395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368846214	chr3:146503423-146503424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559349414	chr3:146503453-146503454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572548661	chr3:146503488-146503489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539958353	chr3:146503515-146503516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192020622	chr3:146503523-146503524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183308679	chr3:146503545-146503546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373945504	chr3:146503582-146503583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557860498	chr3:146503614-146503615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571665705	chr3:146503626-146503627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147563108	chr3:146503646-146503647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35624163	chr3:146503703-146503704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142243550	chr3:146503705-146503706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567770877	chr3:146503718-146503719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17371532	chr3:146503736-146503737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553517443	chr3:146503860-146503861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543458287	chr3:146503900-146503901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573131437	chr3:146503901-146503902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571788081	chr3:146503935-146503936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146189679	chr3:146503962-146503963	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
Bipolar disorder	18458673	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
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146499200-146503400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:146499600-146502800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:146501400-146503400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:146501600-146502600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:146502600-146504200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:146502800-146503600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:146503200-146503800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:146503200-146503800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:146503400-146504000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:146505800-146506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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