Variant report

Variant	nsv1015797
Chromosome Location	chr8:113958358-113999858
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	chr8:113982822..113985286-chr8:113988301..113991083,2	K562	blood:
2	chr8:113982822..113985286-chr8:113988301..113991083,2	K562	blood:

Extended variants
information (count: 203 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190660186	chr8:113975404-113975405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530002158	chr8:113975416-113975417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7007990	chr8:113975465-113975466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544299411	chr8:113975467-113975468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557861473	chr8:113975474-113975475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577753655	chr8:113975479-113975480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72682180	chr8:113975485-113975486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552126251	chr8:113975501-113975502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10505197	chr8:113975571-113975572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182531257	chr8:113975580-113975581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548437000	chr8:113975613-113975614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568078661	chr8:113975619-113975620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533732212	chr8:113975633-113975634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368975461	chr8:113975694-113975695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141945136	chr8:113975787-113975788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193030695	chr8:113976809-113976810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577142184	chr8:113976829-113976830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549316247	chr8:113976855-113976856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562960793	chr8:113976873-113976874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531411927	chr8:113976953-113976954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542095247	chr8:113976985-113976986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149892206	chr8:113977001-113977002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185774518	chr8:113977004-113977005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537885297	chr8:113977062-113977063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375534035	chr8:113977063-113977064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547685012	chr8:113977068-113977069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187212768	chr8:113977102-113977103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530088121	chr8:113977126-113977127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549610688	chr8:113977135-113977136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569779589	chr8:113977206-113977207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192124265	chr8:113977207-113977208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184467167	chr8:113977354-113977355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568294692	chr8:113977393-113977394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558200290	chr8:113977394-113977395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10505198	chr8:113977445-113977446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144945371	chr8:113977446-113977447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577177984	chr8:113977462-113977463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578034318	chr8:113977470-113977471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533946241	chr8:113977472-113977473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188527082	chr8:113977477-113977478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556282769	chr8:113977521-113977522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576523783	chr8:113977523-113977524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181500683	chr8:113977555-113977556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75290659	chr8:113977565-113977566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531666055	chr8:113983203-113983204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531872773	chr8:113983229-113983230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548478614	chr8:113983241-113983242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112089727	chr8:113983301-113983302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561684930	chr8:113983369-113983370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562001235	chr8:113983419-113983420	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Glioblastoma multiforme	21080181	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113975400-113975800	Enhancers	Hela-S3	cervix
2	chr8:113976800-113977600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:113977000-113977600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:113983200-113983600	Enhancers	Fetal Intestine Small	intestine
5	chr8:113988000-113988400	Active TSS	Hela-S3	cervix
6	chr8:113988000-113988600	Enhancers	Fetal Brain Male	brain
7	chr8:113994400-113997000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr8:113994600-113994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:113994600-113995000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:113994600-113995000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:113994800-113995800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:113995000-113995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:113995000-113996000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:113995400-113996000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:113995800-113996200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:113996000-113996200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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