Variant report

Variant	nsv819897
Chromosome Location	chr8:104987702-105002005
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	chr8:104945753..104947544-chr8:104999072..105000833,2	K562	blood:
2	chr8:105001334..105003003-chr8:105007381..105009092,2	K562	blood:

Extended variants
information (count: 518 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34236346	chr8:104987711-104987712	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563192376	chr8:104987721-104987722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575322953	chr8:104987745-104987746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199619344	chr8:104987759-104987760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72683111	chr8:104987771-104987772	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561039641	chr8:104987804-104987805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72683112	chr8:104987823-104987824	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146919418	chr8:104987825-104987826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565193820	chr8:104987842-104987843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533127364	chr8:104987847-104987848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543127674	chr8:104987850-104987851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551774487	chr8:104987869-104987870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570018077	chr8:104987873-104987874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537132934	chr8:104987913-104987914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372317715	chr8:104987948-104987949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13251060	chr8:104988054-104988055	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567518496	chr8:104988062-104988063	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557913856	chr8:104988090-104988091	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187402178	chr8:104988096-104988097	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577451244	chr8:104988117-104988118	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538219471	chr8:104988139-104988140	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79974827	chr8:104988166-104988167	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542215394	chr8:104988192-104988193	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575349434	chr8:104988244-104988245	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542737276	chr8:104988281-104988282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191538856	chr8:104988332-104988333	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201129444	chr8:104988333-104988334	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2003	chr8:104988343-104988344	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540433866	chr8:104988356-104988357	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564999083	chr8:104988371-104988372	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376444337	chr8:104988381-104988382	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559786672	chr8:104988404-104988405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2212793	chr8:104988420-104988421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184864618	chr8:104988437-104988438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573404722	chr8:104988512-104988513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530853297	chr8:104988542-104988543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549060961	chr8:104988658-104988659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189959804	chr8:104988661-104988662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528620209	chr8:104988677-104988678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547185021	chr8:104988695-104988696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200875830	chr8:104988752-104988753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369280112	chr8:104988764-104988765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372600204	chr8:104988770-104988771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571817934	chr8:104988781-104988782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201866577	chr8:104988783-104988784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12114906	chr8:104988784-104988785	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557412876	chr8:104988838-104988839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180808145	chr8:104988839-104988840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544522083	chr8:104988867-104988868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562105479	chr8:104988878-104988879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104975000-104993600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:104977400-104989600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:104977400-104991800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:104978000-104991800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:104978400-104992200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:104983000-104987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:104983200-104992000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:104983200-104994000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:104983400-104993600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:104985200-104992200	Weak transcription	Brain Anterior Caudate	brain
11	chr8:104986000-104988000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:104986800-104989200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:104987000-104988000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:104987400-104988600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:104987600-104988000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:104987600-104988400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:104987600-104988400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:104987600-104988600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:104987600-104989200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:104987800-104988400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:104988000-104988200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:104988000-104988400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:104988000-104988400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:104988200-104988400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:104988400-104990000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:104988400-104991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:104988400-104991800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:104988400-104992200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:104988400-104992200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:104988400-104994000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:104988600-104991600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:104988600-104992400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:104989200-104992000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:104990000-104991800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:104991600-104992800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:104991600-104993600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:104991600-104993800	Enhancers	HMEC	breast
38	chr8:104991800-104992200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr8:104991800-104992400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:104991800-104993000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:104992000-104992800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:104992000-104992800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr8:104992000-104992800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:104992000-104993000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:104992000-104993400	Enhancers	NHEK	skin
46	chr8:104992000-104993600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:104992000-104993600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr8:104992200-104992400	Enhancers	Brain Anterior Caudate	brain
49	chr8:104992200-104992800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:104992200-104992800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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