Variant report

Variant	nsv437345
Chromosome Location	chr3:144277333-144302713
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	chr3:143689445..143692390-chr3:144295260..144296931,2	MCF-7	breast:
2	chr11:62609055..62609630-chr3:144293870..144294370,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000133316	chromatin interactions
ENSG00000181744	chromatin interactions

Extended variants
information (count: 353 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2717389	chr3:144277333-144277334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193151934	chr3:144277358-144277359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373719260	chr3:144277408-144277409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534904925	chr3:144277412-144277413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539427595	chr3:144277446-144277447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548383431	chr3:144277468-144277469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142845956	chr3:144277566-144277567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547273690	chr3:144277608-144277609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2694959	chr3:144277618-144277619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185257997	chr3:144277648-144277649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151095701	chr3:144277691-144277692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573863254	chr3:144277734-144277735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372556126	chr3:144277743-144277744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71140483	chr3:144277763-144277764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2717390	chr3:144277770-144277771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145881062	chr3:144277796-144277797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190013266	chr3:144277913-144277914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557758808	chr3:144277919-144277920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544185148	chr3:144277930-144277931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530428663	chr3:144278036-144278037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114612620	chr3:144278055-144278056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561181236	chr3:144278063-144278064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568127979	chr3:144278064-144278065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149211515	chr3:144278083-144278084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528278583	chr3:144278113-144278114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546844122	chr3:144278134-144278135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566038502	chr3:144278170-144278171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192815588	chr3:144278198-144278199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13082758	chr3:144278221-144278222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13082761	chr3:144278226-144278227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201682302	chr3:144278248-144278249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377528247	chr3:144278259-144278260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73871221	chr3:144278299-144278300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569983900	chr3:144278332-144278333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537181200	chr3:144278336-144278337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116711633	chr3:144278352-144278353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555626974	chr3:144278469-144278470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76797517	chr3:144278479-144278480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188007394	chr3:144278482-144278483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553194598	chr3:144278488-144278489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573825169	chr3:144278489-144278490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540829630	chr3:144278524-144278525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374358030	chr3:144278533-144278534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180777725	chr3:144278551-144278552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140715979	chr3:144278582-144278583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75103435	chr3:144278602-144278603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542677839	chr3:144278614-144278615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559240766	chr3:144278625-144278626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577490126	chr3:144278627-144278628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544884352	chr3:144278642-144278643	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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	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
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144275200-144279800	Enhancers	Fetal Intestine Small	intestine
2	chr3:144277200-144278600	Enhancers	Duodenum Mucosa	Duodenum
3	chr3:144279200-144280400	Enhancers	Fetal Heart	heart
4	chr3:144282600-144283600	Enhancers	HUVEC	blood vessel
5	chr3:144282800-144283400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:144282800-144283400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr3:144287800-144289400	Enhancers	Fetal Lung	lung
8	chr3:144288800-144289600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:144302600-144303200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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