Variant report

Variant	nsv522476
Chromosome Location	chr3:20436493-20443549
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	chr3:20436330..20438604-chr3:20439437..20442062,2	MCF-7	breast:
2	chr3:20436330..20438604-chr3:20439437..20442062,2	MCF-7	breast:

Extended variants
information (count: 293 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1401921	chr3:20436493-20436494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534996973	chr3:20436508-20436509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553578347	chr3:20436519-20436520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112771218	chr3:20436563-20436564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75407016	chr3:20436584-20436585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560160352	chr3:20436585-20436586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554678183	chr3:20436644-20436645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184416262	chr3:20436729-20436730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547446783	chr3:20436800-20436801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1829495	chr3:20436810-20436811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558578260	chr3:20436866-20436867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536503301	chr3:20436871-20436872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375117518	chr3:20436926-20436927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540923512	chr3:20436964-20436965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56846124	chr3:20436983-20436984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79134264	chr3:20437018-20437019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78794833	chr3:20437048-20437049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563467261	chr3:20437067-20437068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370478495	chr3:20437083-20437084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552192382	chr3:20437106-20437107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35142916	chr3:20437113-20437114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142689169	chr3:20437135-20437136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144991578	chr3:20437176-20437177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60061588	chr3:20437178-20437179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397805662	chr3:20437192-20437193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546936822	chr3:20437214-20437215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76765286	chr3:20437244-20437245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535698865	chr3:20437246-20437247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60660631	chr3:20437253-20437254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144410914	chr3:20437262-20437263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557873566	chr3:20437285-20437286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116759984	chr3:20437296-20437297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148375185	chr3:20437300-20437301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558593225	chr3:20437312-20437313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533807092	chr3:20437325-20437326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576724831	chr3:20437336-20437337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541336776	chr3:20437393-20437394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141549435	chr3:20437403-20437404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9826347	chr3:20437411-20437412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541653901	chr3:20437431-20437432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563131499	chr3:20437476-20437477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114985957	chr3:20437481-20437482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573889343	chr3:20437506-20437507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564147661	chr3:20437523-20437524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189141654	chr3:20437547-20437548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117033238	chr3:20437586-20437587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546952738	chr3:20437587-20437588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562280405	chr3:20437589-20437590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569358479	chr3:20437593-20437594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372976756	chr3:20437594-20437595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20436000-20448200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:20436200-20445200	Weak transcription	Fetal Intestine Small	intestine
3	chr3:20436200-20445800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:20436200-20453400	Weak transcription	Pancreas	Pancrea
5	chr3:20437800-20438400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:20441400-20442000	Enhancers	Aorta	Aorta
7	chr3:20442200-20443200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:20442800-20443400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:20443200-20443400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:20443200-20446800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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