Variant report

Variant	nsv971257
Chromosome Location	chr8:113919138-113921078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 102 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539359711	chr8:113919172-113919173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370691046	chr8:113919180-113919181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567647193	chr8:113919205-113919206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184593454	chr8:113919227-113919228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556781628	chr8:113919249-113919250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570272912	chr8:113919277-113919278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187194299	chr8:113919342-113919343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145019948	chr8:113919345-113919346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557185182	chr8:113919381-113919382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370140223	chr8:113919382-113919383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555982645	chr8:113919422-113919423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140464218	chr8:113919425-113919426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191953323	chr8:113919463-113919464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557753397	chr8:113919486-113919487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374105692	chr8:113919512-113919513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183715962	chr8:113919513-113919514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188385051	chr8:113919534-113919535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193041715	chr8:113919552-113919553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574017975	chr8:113919573-113919574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529038523	chr8:113919620-113919621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185742259	chr8:113919678-113919679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559561530	chr8:113919707-113919708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528415805	chr8:113919714-113919715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551371627	chr8:113919723-113919724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552888064	chr8:113919744-113919745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189824691	chr8:113919762-113919763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2045540	chr8:113919803-113919804	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142807604	chr8:113919859-113919860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567256221	chr8:113919930-113919931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541451428	chr8:113919953-113919954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561429246	chr8:113919961-113919962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181931004	chr8:113919982-113919983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575259018	chr8:113919996-113919997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76915134	chr8:113920177-113920178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373769275	chr8:113920200-113920201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188506761	chr8:113920402-113920403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574063946	chr8:113920409-113920410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4876501	chr8:113920441-113920442	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181308005	chr8:113920479-113920480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147417552	chr8:113920496-113920497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375130055	chr8:113920524-113920525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560117993	chr8:113920544-113920545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184996420	chr8:113920569-113920570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528481154	chr8:113920602-113920603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530474431	chr8:113920612-113920613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368480510	chr8:113920629-113920630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116958172	chr8:113920649-113920650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191120287	chr8:113920744-113920745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183711259	chr8:113920774-113920775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372102563	chr8:113920979-113920980	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113916200-113920200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:113916800-113919600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:113917800-113919600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:113920400-113920800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:113920600-113921000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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