Variant report

Variant	nsv980585
Chromosome Location	chr5:120794679-120799486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs575348240	chr5:120794686-120794687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147496730	chr5:120794695-120794696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1428687	chr5:120794723-120794724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570731718	chr5:120794746-120794747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551220962	chr5:120794747-120794748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528286479	chr5:120794751-120794752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1544942	chr5:120794753-120794754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565334221	chr5:120794764-120794765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187617013	chr5:120794772-120794773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550915925	chr5:120794801-120794802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533592840	chr5:120794822-120794823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568894743	chr5:120794832-120794833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192102107	chr5:120794880-120794881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34098288	chr5:120794882-120794883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376967358	chr5:120794887-120794888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184325682	chr5:120794890-120794891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377684135	chr5:120794900-120794901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189569426	chr5:120794957-120794958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192816195	chr5:120794969-120794970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370595117	chr5:120794989-120794990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373877278	chr5:120794997-120794998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571291362	chr5:120795013-120795014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148169043	chr5:120795020-120795021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552370504	chr5:120795066-120795067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142029350	chr5:120795109-120795110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17147840	chr5:120795136-120795137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150691833	chr5:120795158-120795159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554866320	chr5:120795184-120795185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368486436	chr5:120795231-120795232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573059531	chr5:120795239-120795240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184374023	chr5:120795253-120795254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139707035	chr5:120795268-120795269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577000263	chr5:120795340-120795341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77960973	chr5:120795391-120795392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562686150	chr5:120795396-120795397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530028362	chr5:120795413-120795414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548186481	chr5:120795425-120795426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560367489	chr5:120795449-120795450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10519668	chr5:120795472-120795473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558018294	chr5:120795503-120795504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537457478	chr5:120795568-120795569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552869282	chr5:120795632-120795633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143570586	chr5:120795649-120795650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375656847	chr5:120795675-120795676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550687132	chr5:120795696-120795697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568985793	chr5:120795707-120795708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189311976	chr5:120795746-120795747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545289085	chr5:120795754-120795755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146337307	chr5:120795775-120795776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573060659	chr5:120795784-120795785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120794600-120794800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:120794800-120796800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:120796800-120797000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:120797000-120797600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:120797600-120799200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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