Variant report

Variant	nsv972201
Chromosome Location	chr8:111933456-111946786
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	chr8:111939480-111939630	A549	lung:	n/a	n/a
2	E2F4	chr8:111946655-111946844	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F6	chr8:111946640-111947204	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr8:111946720-111947065	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXA2	chr8:111940854-111941297	A549	lung:	n/a	n/a
6	FOXA2	chr8:111940916-111941349	A549	lung:	n/a	n/a
7	GATA2	chr8:111945859-111946291	SH-SY5Y	brain:	n/a	chr8:111946022-111946032 chr8:111946022-111946029 chr8:111946019-111946031 chr8:111946055-111946067
8	GATA3	chr8:111945850-111946200	SH-SY5Y	brain:	n/a	chr8:111946022-111946032 chr8:111946022-111946029 chr8:111946019-111946031 chr8:111946055-111946067
9	MAFK	chr8:111942913-111943135	HepG2	liver:	n/a	n/a
10	MAZ	chr8:111942452-111942483	GM12878	blood:	n/a	n/a
11	NFYA	chr8:111935211-111935408	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr8:111935841-111936041	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr8:111939414-111939543	MCF-7	breast:	n/a	n/a
14	POLR2A	chr8:111944911-111944921	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr8:111933707-111933853	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:111934736-111934936	MCF10A-Er-Src	breast:	n/a	n/a
17	SPI1	chr8:111945183-111945379	HL-60	blood:	n/a	n/a
18	STAT3	chr8:111940419-111940677	MCF10A-Er-Src	breast:	n/a	n/a
19	TBP	chr8:111942751-111942774	GM12878	blood:	n/a	n/a
20	ZNF143	chr8:111939318-111939518	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:111929502..111932269-chr8:111933954..111936192,2	MCF-7	breast:
2	chr8:111877768..111878423-chr8:111945734..111946406,2	MCF-7	breast:
3	chr8:111923379..111925877-chr8:111931950..111934366,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254241	TF binding region

Extended variants
information (count: 409 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:409 , 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	rs140349004	chr8:111933507-111933508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569623819	chr8:111933529-111933530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539804429	chr8:111933556-111933557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192743510	chr8:111933570-111933571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58119286	chr8:111933587-111933588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373597901	chr8:111933615-111933616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34002311	chr8:111933631-111933632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199765459	chr8:111933632-111933633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397789783	chr8:111933644-111933645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10090797	chr8:111933645-111933646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10105550	chr8:111933647-111933648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535931126	chr8:111933712-111933713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368444860	chr8:111933736-111933737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555613537	chr8:111933767-111933768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1979620	chr8:111933780-111933781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138051989	chr8:111933793-111933794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142588981	chr8:111933794-111933795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4143846	chr8:111933800-111933801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577934747	chr8:111933844-111933845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542987266	chr8:111933862-111933863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16881381	chr8:111934212-111934213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559387915	chr8:111934216-111934217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7013784	chr8:111934243-111934244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184734391	chr8:111934276-111934277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542699121	chr8:111934299-111934300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559230184	chr8:111934302-111934303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541588811	chr8:111934305-111934306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528244508	chr8:111934307-111934308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35076556	chr8:111934320-111934321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538731033	chr8:111934366-111934367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548199692	chr8:111934381-111934382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189501794	chr8:111934411-111934412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570050098	chr8:111934474-111934475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530399881	chr8:111934479-111934480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145994377	chr8:111934480-111934481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549450385	chr8:111934490-111934491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542282787	chr8:111934521-111934522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566041037	chr8:111934585-111934586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537269131	chr8:111934590-111934591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535177953	chr8:111934591-111934592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557952422	chr8:111934601-111934602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112507538	chr8:111934620-111934621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537335792	chr8:111934678-111934679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557275083	chr8:111934708-111934709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373071752	chr8:111934890-111934891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376583013	chr8:111934906-111934907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550279667	chr8:111934907-111934908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542261794	chr8:111934926-111934927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552993737	chr8:111934961-111934962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370151035	chr8:111934982-111934983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	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
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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111929600-111942400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:111939200-111939800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:111939400-111939600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:111939800-111940800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:111940800-111941200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:111942400-111942600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:111943600-111944800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:111943800-111944200	Enhancers	HSMM	muscle
9	chr8:111943800-111944400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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