Variant report

Variant	nsv981937
Chromosome Location	chr8:51666570-51678660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:51671556-51671652	GM20000	blood:	n/a	n/a
2	E2F4	chr8:51677488-51677692	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr8:51670566-51670813	HepG2	liver:	n/a	n/a
4	MXI1	chr8:51673931-51674119	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr8:51671887-51671999	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:51669242-51669352	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:51671886-51672079	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr8:51669934-51670040	MCF10A-Er-Src	breast:	n/a	n/a
9	RAD21	chr8:51673924-51674005	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT3	chr8:51669438-51669627	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr8:51666600-51666782	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr8:51670081-51670093	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51677159..51678716-chr8:51680516..51682123,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PXDNL-4	chr8:51675020-51675358	NONHSAT126529

Variant related genes	Relation type
CYCSP22	TF binding region

Extended variants
information (count: 273 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576730592	chr8:51669036-51669037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59505893	chr8:51669088-51669089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555958584	chr8:51669110-51669111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73678687	chr8:51669134-51669135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6985321	chr8:51669146-51669147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561263367	chr8:51669161-51669162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533191722	chr8:51669192-51669193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116768488	chr8:51669197-51669198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540633204	chr8:51669215-51669216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565548273	chr8:51669241-51669242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7005117	chr8:51669249-51669250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189961215	chr8:51669279-51669280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144743820	chr8:51669296-51669297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370169776	chr8:51669321-51669322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7009255	chr8:51669326-51669327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs57329728	chr8:51669327-51669328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566454216	chr8:51669339-51669340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533735958	chr8:51669346-51669347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551778346	chr8:51669357-51669358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548976333	chr8:51669384-51669385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192874824	chr8:51669423-51669424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185152584	chr8:51669430-51669431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367853337	chr8:51669507-51669508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556068827	chr8:51669577-51669578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574575421	chr8:51669631-51669632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535297751	chr8:51669724-51669725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117002638	chr8:51669727-51669728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573276051	chr8:51669737-51669738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540596448	chr8:51669789-51669790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11776122	chr8:51669796-51669797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs72645837	chr8:51669810-51669811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568790829	chr8:51669896-51669897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563078758	chr8:51669918-51669919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536119274	chr8:51669950-51669951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190083850	chr8:51669952-51669953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75499549	chr8:51669981-51669982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565693479	chr8:51669992-51669993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548500958	chr8:51670006-51670007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560165957	chr8:51670102-51670103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150399906	chr8:51670124-51670125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557278373	chr8:51670225-51670226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148982819	chr8:51670230-51670231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560230766	chr8:51670245-51670246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143737157	chr8:51670252-51670253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573256975	chr8:51670255-51670256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13272612	chr8:51670266-51670267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113391409	chr8:51670296-51670297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557844091	chr8:51670318-51670319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550005313	chr8:51670369-51670370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151128559	chr8:51670385-51670386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51669000-51670400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51670400-51671000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:51673800-51674000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:51674000-51682800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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