Variant report

Variant	nsv1028083
Chromosome Location	chr8:96447786-96459194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96448397..96451100-chr8:96451208..96454533,3	MCF-7	breast:
2	chr8:96430126..96432297-chr8:96457329..96459845,2	K562	blood:
3	chr8:96448397..96451100-chr8:96451208..96454533,3	MCF-7	breast:

Extended variants
information (count: 189 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs12678373	chr8:96447786-96447787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146835964	chr8:96447787-96447788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200273679	chr8:96447807-96447808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578018752	chr8:96447819-96447820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs118155728	chr8:96447845-96447846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559498064	chr8:96447850-96447851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572834801	chr8:96447998-96447999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542056261	chr8:96447999-96448000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188660891	chr8:96448000-96448001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530848921	chr8:96448051-96448052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550517633	chr8:96448098-96448099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563958565	chr8:96448124-96448125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181147864	chr8:96448146-96448147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11987774	chr8:96448150-96448151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12676329	chr8:96448154-96448155	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566714565	chr8:96448170-96448171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566057298	chr8:96448198-96448199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140727624	chr8:96448241-96448242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567548198	chr8:96448247-96448248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549166885	chr8:96448256-96448257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569177857	chr8:96448259-96448260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10956951	chr8:96448360-96448361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144480879	chr8:96448365-96448366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375423087	chr8:96448399-96448400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113626833	chr8:96448415-96448416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186025588	chr8:96448515-96448516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375339917	chr8:96448579-96448580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78607561	chr8:96448582-96448583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145478122	chr8:96448589-96448590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542019806	chr8:96448596-96448597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190931529	chr8:96448597-96448598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182150410	chr8:96448600-96448601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151265341	chr8:96448640-96448641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148821034	chr8:96448656-96448657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79837027	chr8:96448675-96448676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77934984	chr8:96448680-96448681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538468738	chr8:96448685-96448686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532827638	chr8:96448687-96448688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540229994	chr8:96448775-96448776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117502107	chr8:96448779-96448780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559157891	chr8:96448825-96448826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528976380	chr8:96448989-96448990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549130340	chr8:96449001-96449002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369457307	chr8:96449009-96449010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569141020	chr8:96449040-96449041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532030980	chr8:96449041-96449042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572046557	chr8:96449048-96449049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371729400	chr8:96449079-96449080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111493591	chr8:96449175-96449176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187212107	chr8:96449177-96449178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Malignant melanoma	17260012	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96443200-96447800	Weak transcription	Fetal Lung	lung
2	chr8:96444600-96449200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:96446600-96448200	Enhancers	Colon Smooth Muscle	Colon
4	chr8:96447400-96448000	Enhancers	Rectal Smooth Muscle	rectum
5	chr8:96447400-96448800	Enhancers	Fetal Stomach	stomach
6	chr8:96447600-96449800	Enhancers	Ovary	ovary
7	chr8:96447800-96449600	Enhancers	Fetal Lung	lung
8	chr8:96448800-96450000	Enhancers	Liver	Liver
9	chr8:96449200-96449400	Enhancers	Stomach Smooth Muscle	stomach
10	chr8:96451600-96451800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:96453800-96454800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:96453800-96455400	Enhancers	HUVEC	blood vessel
13	chr8:96454200-96454800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:96454200-96454800	Enhancers	Osteobl	bone
15	chr8:96454400-96454800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:96454800-96456200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:96455000-96456000	Enhancers	Right Ventricle	heart
18	chr8:96455800-96456800	Enhancers	Fetal Heart	heart
19	chr8:96456200-96456400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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