Variant report

Variant	nsv525018
Chromosome Location	chr8:59976834-59988579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 435 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16924532	chr8:59976834-59976835	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540666054	chr8:59976855-59976856	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542509379	chr8:59976882-59976883	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563695260	chr8:59976893-59976894	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186442043	chr8:59976895-59976896	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146993209	chr8:59976901-59976902	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546057701	chr8:59976909-59976910	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368013978	chr8:59976976-59976977	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537312206	chr8:59977044-59977045	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138197188	chr8:59977109-59977110	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559598362	chr8:59977120-59977121	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557707954	chr8:59977127-59977128	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562954378	chr8:59977176-59977177	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs73256310	chr8:59977184-59977185	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189692760	chr8:59977237-59977238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562258884	chr8:59977263-59977264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75873107	chr8:59977320-59977321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547822065	chr8:59977389-59977390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs394226	chr8:59977433-59977434	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539768250	chr8:59977439-59977440	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs550017220	chr8:59977514-59977515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564596865	chr8:59977540-59977541	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569827607	chr8:59977546-59977547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533250605	chr8:59977555-59977556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143778966	chr8:59977636-59977637	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550166511	chr8:59977650-59977651	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs371622674	chr8:59977678-59977679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs569924901	chr8:59977709-59977710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs373320456	chr8:59977793-59977794	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs72651384	chr8:59977796-59977797	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs549228325	chr8:59977824-59977825	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs566023153	chr8:59977945-59977946	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557352732	chr8:59978005-59978006	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs577181857	chr8:59978045-59978046	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs182276357	chr8:59978085-59978086	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs143186358	chr8:59978118-59978119	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs181978425	chr8:59978138-59978139	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs542449692	chr8:59978173-59978174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562104142	chr8:59978201-59978202	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs80046929	chr8:59978309-59978310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs557910740	chr8:59978313-59978314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs577354788	chr8:59978314-59978315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369616733	chr8:59978342-59978343	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs527792866	chr8:59978344-59978345	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536717706	chr8:59978391-59978392	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs547886778	chr8:59978400-59978401	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546157227	chr8:59978409-59978410	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374244682	chr8:59978419-59978420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs564489098	chr8:59978450-59978451	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs62504554	chr8:59978468-59978469	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59957800-59989800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:59968600-59981200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:59969600-59979400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:59969600-59995400	Weak transcription	Osteobl	bone
5	chr8:59971400-59979200	Weak transcription	Small Intestine	intestine
6	chr8:59971400-59982400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:59971600-59978600	Weak transcription	Thymus	Thymus
8	chr8:59971800-59977800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:59971800-59978800	Weak transcription	Fetal Heart	heart
10	chr8:59972400-59977600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:59972400-59978400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:59972800-59977600	Weak transcription	Primary T cells from cord blood	blood
13	chr8:59973400-59980600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:59974400-59977800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:59974400-59977800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:59974400-59979600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:59974400-59981200	Weak transcription	Fetal Thymus	thymus
18	chr8:59974600-59977000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:59974600-59977600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:59974800-59978200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:59974800-59981200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:59975000-59979600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:59975000-59980000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:59975200-59977400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:59975200-59980000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:59975600-59979600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:59975800-59980400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:59976000-59979400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:59976200-59977200	Enhancers	Fetal Brain Male	brain
30	chr8:59976400-59977000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr8:59976400-59977200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:59976400-59977200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr8:59976400-59977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:59976400-59979000	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:59976400-59979600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:59976400-59979600	Enhancers	Colon Smooth Muscle	Colon
37	chr8:59976400-59979800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:59976600-59977000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr8:59976600-59977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:59976600-59979400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr8:59976600-59979800	Enhancers	Brain Germinal Matrix	brain
42	chr8:59976600-59981400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:59976800-59977000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:59976800-59977000	Enhancers	Dnd41	blood
45	chr8:59976800-59977800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr8:59976800-59978400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:59977000-59977200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr8:59977000-59977600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:59977000-59978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr8:59977000-59978400	Weak transcription	H1 Cell Line	embryonic stem cell

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