Variant report

Variant	nsv969236
Chromosome Location	chr5:99010510-99020740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:99014412..99016178-chr5:99017039..99019212,2	K562	blood:
2	chr5:99005599..99009743-chr5:99010276..99013460,3	MCF-7	breast:
3	chr5:99014412..99016178-chr5:99017039..99019212,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547618088	chr5:99010566-99010567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574361434	chr5:99010598-99010599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541863727	chr5:99010728-99010729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575332775	chr5:99010733-99010734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560012989	chr5:99010793-99010794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146810178	chr5:99011645-99011646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572042387	chr5:99011697-99011698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545960498	chr5:99011710-99011711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113243091	chr5:99011714-99011715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372217829	chr5:99011720-99011721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1462429	chr5:99011726-99011727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561848473	chr5:99011762-99011763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533352705	chr5:99011791-99011792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369703906	chr5:99011832-99011833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548264794	chr5:99011843-99011844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560581962	chr5:99011882-99011883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115850582	chr5:99011886-99011887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566950787	chr5:99011940-99011941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552265658	chr5:99011944-99011945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7702806	chr5:99011953-99011954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538071986	chr5:99011960-99011961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189850525	chr5:99011965-99011966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182159465	chr5:99011967-99011968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6594604	chr5:99011987-99011988	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs553477913	chr5:99011992-99011993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372063408	chr5:99012002-99012003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143128135	chr5:99012070-99012071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539491952	chr5:99012073-99012074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148249109	chr5:99012074-99012075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188036794	chr5:99012078-99012079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116751477	chr5:99012114-99012115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192880153	chr5:99012127-99012128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573847996	chr5:99012140-99012141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528858231	chr5:99014916-99014917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368607311	chr5:99014918-99014919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550392796	chr5:99014949-99014950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569111473	chr5:99014974-99014975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146157318	chr5:99015009-99015010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181438075	chr5:99015019-99015020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573958941	chr5:99015042-99015043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535074979	chr5:99015157-99015158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140196808	chr5:99015176-99015177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143588876	chr5:99015185-99015186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538008612	chr5:99015187-99015188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545603158	chr5:99015199-99015200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186499487	chr5:99015227-99015228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151259451	chr5:99015249-99015250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542994109	chr5:99015392-99015393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560901670	chr5:99015393-99015394	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99010000-99010800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:99011600-99012000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:99011600-99012000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:99011800-99012200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:99014800-99015400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:99015000-99015400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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