Variant report

Variant	nsv980995
Chromosome Location	chr5:116956944-116970733
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	chr5:116951542..116953877-chr5:116957366..116959083,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573544631	chr5:116958252-116958253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184795914	chr5:116958266-116958267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563196169	chr5:116958276-116958277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576603022	chr5:116958289-116958290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111708880	chr5:116958348-116958349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13152853	chr5:116958413-116958414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116056828	chr5:116958423-116958424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370191987	chr5:116958427-116958428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547452212	chr5:116958434-116958435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560957626	chr5:116958487-116958488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147718525	chr5:116958496-116958497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549053321	chr5:116958555-116958556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187676700	chr5:116958591-116958592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531439822	chr5:116958592-116958593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73265043	chr5:116958617-116958618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551578988	chr5:116958618-116958619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557919808	chr5:116958633-116958634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386691558	chr5:116958646-116958647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7722423	chr5:116958648-116958649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553860450	chr5:116958659-116958660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142102439	chr5:116958661-116958662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191407489	chr5:116958662-116958663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183931710	chr5:116958682-116958683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576654452	chr5:116958720-116958721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545271013	chr5:116958728-116958729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558744042	chr5:116958797-116958798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572265879	chr5:116958835-116958836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189400708	chr5:116958847-116958848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182001622	chr5:116958862-116958863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145849595	chr5:116958863-116958864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17344021	chr5:116958870-116958871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562666708	chr5:116958901-116958902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147790839	chr5:116959047-116959048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74935926	chr5:116959177-116959178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185169441	chr5:116959197-116959198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527432411	chr5:116959257-116959258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547559267	chr5:116959270-116959271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6888361	chr5:116959336-116959337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs267019	chr5:116959363-116959364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527583947	chr5:116959368-116959369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556147015	chr5:116959379-116959380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77764194	chr5:116959412-116959413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143425624	chr5:116959418-116959419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190047329	chr5:116959419-116959420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148061745	chr5:116959426-116959427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367587679	chr5:116959434-116959435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554800121	chr5:116959441-116959442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76492229	chr5:116959453-116959454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543523031	chr5:116959468-116959469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563714389	chr5:116959483-116959484	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116958200-116960000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:116958400-116959400	Enhancers	Fetal Muscle Leg	muscle
3	chr5:116958600-116959600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:116958800-116959200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:116959000-116959400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:116959000-116960200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:116959200-116959600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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