Variant report

Variant	nsv442117
Chromosome Location	chr8:111988056-111990102
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	chr8:111986722..111988349-chr8:112001568..112003641,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568167493	chr8:111988061-111988062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533710952	chr8:111988076-111988077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78976702	chr8:111988088-111988089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145600183	chr8:111988191-111988192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569737657	chr8:111988235-111988236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539786674	chr8:111988247-111988248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367839062	chr8:111988262-111988263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371353163	chr8:111988264-111988265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558978265	chr8:111988295-111988296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72677188	chr8:111988303-111988304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544642480	chr8:111988404-111988405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78089462	chr8:111988418-111988419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574886976	chr8:111988429-111988430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543973662	chr8:111988463-111988464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147718953	chr8:111988475-111988476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557943476	chr8:111988497-111988498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142436765	chr8:111988520-111988521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190919840	chr8:111988535-111988536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146471499	chr8:111988567-111988568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562122731	chr8:111988602-111988603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112317961	chr8:111988613-111988614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34997662	chr8:111988621-111988622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377578115	chr8:111988626-111988627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548181696	chr8:111988687-111988688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578081573	chr8:111988715-111988716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112359203	chr8:111988740-111988741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565473043	chr8:111988837-111988838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527381288	chr8:111988852-111988853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376082047	chr8:111988878-111988879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376737735	chr8:111988880-111988881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532843746	chr8:111988919-111988920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547270038	chr8:111988942-111988943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117239521	chr8:111988953-111988954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138733403	chr8:111988959-111988960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550075426	chr8:111988975-111988976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569985084	chr8:111989001-111989002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182751073	chr8:111989016-111989017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554952098	chr8:111989018-111989019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574835133	chr8:111989029-111989030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370773902	chr8:111989057-111989058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373152551	chr8:111989095-111989096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148936011	chr8:111989169-111989170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534344845	chr8:111989193-111989194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554056229	chr8:111989195-111989196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577050473	chr8:111989266-111989267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140137392	chr8:111989272-111989273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546008595	chr8:111989290-111989291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562804752	chr8:111989314-111989315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185883659	chr8:111989392-111989393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541411796	chr8:111989409-111989410	Enhancers	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111978200-111989400	Weak transcription	Brain Substantia Nigra	brain
2	chr8:111989200-111989800	Enhancers	Brain Cingulate Gyrus	brain
3	chr8:111989400-111989600	Enhancers	Brain Hippocampus Middle	brain
4	chr8:111989400-111990000	Enhancers	Brain Substantia Nigra	brain
5	chr8:111989800-111993400	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:111989800-111995000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:111990000-111995200	Weak transcription	Brain Substantia Nigra	brain

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