Variant report

Variant	nsv1027156
Chromosome Location	chr8:114246358-114290079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6989956	chr8:114246358-114246359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113960382	chr8:114246446-114246447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530576958	chr8:114246517-114246518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190625851	chr8:114246518-114246519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6990249	chr8:114246539-114246540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147158019	chr8:114250807-114250808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186561623	chr8:114250880-114250881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568648401	chr8:114250887-114250888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369037783	chr8:114250898-114250899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140426875	chr8:114250935-114250936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554522264	chr8:114250973-114250974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191410112	chr8:114250988-114250989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577645020	chr8:114251001-114251002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72687685	chr8:114251026-114251027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs56025622	chr8:114251072-114251073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs72670703	chr8:114251080-114251081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541853686	chr8:114251082-114251083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75701636	chr8:114251115-114251116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149285448	chr8:114251133-114251134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571923047	chr8:114251163-114251164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144553619	chr8:114251178-114251179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564041276	chr8:114251255-114251256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183687167	chr8:114251318-114251319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543445396	chr8:114251322-114251323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563135159	chr8:114251374-114251375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566015148	chr8:114272004-114272005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534908954	chr8:114272026-114272027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537330209	chr8:114272045-114272046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138947114	chr8:114272052-114272053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142316349	chr8:114272067-114272068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370760468	chr8:114272103-114272104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557031063	chr8:114272116-114272117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71566040	chr8:114272162-114272163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573636779	chr8:114272189-114272190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536074539	chr8:114272237-114272238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199942650	chr8:114272286-114272287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183990913	chr8:114272305-114272306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555678764	chr8:114272319-114272320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572445449	chr8:114272322-114272323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541333587	chr8:114272328-114272329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564412651	chr8:114272339-114272340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188770262	chr8:114272373-114272374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534510119	chr8:114272398-114272399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543437553	chr8:114272411-114272412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550936954	chr8:114272416-114272417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576761285	chr8:114272514-114272515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563833376	chr8:114272525-114272526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377473492	chr8:114272527-114272528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529369253	chr8:114272530-114272531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180749896	chr8:114272567-114272568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114245200-114246600	Enhancers	Dnd41	blood
2	chr8:114250800-114251200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:114250800-114251400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:114251000-114251400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:114251000-114251400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:114272000-114274400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:114287600-114288800	Enhancers	Fetal Muscle Leg	muscle
8	chr8:114288200-114288400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:114288200-114288800	Enhancers	Psoas Muscle	Psoas

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