Variant report

Variant	nsv968109
Chromosome Location	chr5:101029024-101031207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546009857	chr5:101029039-101029040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564112486	chr5:101029122-101029123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73174504	chr5:101029131-101029132	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543325348	chr5:101029235-101029236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553375679	chr5:101029295-101029296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6890067	chr5:101029359-101029360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528896353	chr5:101029375-101029376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546986438	chr5:101029418-101029419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565465183	chr5:101029436-101029437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114993101	chr5:101029437-101029438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541259718	chr5:101029452-101029453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180698989	chr5:101029457-101029458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11742539	chr5:101029460-101029461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538531838	chr5:101029465-101029466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186003288	chr5:101029475-101029476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576067780	chr5:101029489-101029490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568762553	chr5:101029540-101029541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141050179	chr5:101029572-101029573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10548611	chr5:101029641-101029642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549604078	chr5:101029642-101029643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543536283	chr5:101029722-101029723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375910304	chr5:101029735-101029736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554189283	chr5:101029737-101029738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149844244	chr5:101029751-101029752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545943676	chr5:101029787-101029788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557954653	chr5:101029843-101029844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576111843	chr5:101029869-101029870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145717850	chr5:101029882-101029883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561693990	chr5:101029895-101029896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529128331	chr5:101029931-101029932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192251366	chr5:101029932-101029933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540659841	chr5:101029965-101029966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558887546	chr5:101029982-101029983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533067753	chr5:101030058-101030059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565126681	chr5:101030065-101030066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148498094	chr5:101030137-101030138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370921640	chr5:101030192-101030193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115553446	chr5:101030196-101030197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372768070	chr5:101030269-101030270	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376551947	chr5:101030291-101030292	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs142874215	chr5:101030337-101030338	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs568799375	chr5:101030338-101030339	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs536143550	chr5:101030339-101030340	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550055369	chr5:101030403-101030404	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547745967	chr5:101030433-101030434	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566052345	chr5:101030483-101030484	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539926052	chr5:101030484-101030485	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557931437	chr5:101030520-101030521	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs374536323	chr5:101030548-101030549	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs576477100	chr5:101030566-101030567	Weak transcription Active TSS	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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101014400-101037600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:101027400-101029400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:101029400-101031000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:101030200-101030600	Active TSS	Gastric	stomach
5	chr5:101031000-101031200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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