Variant report

Variant	nsv526069
Chromosome Location	chr8:89998242-90006314
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	chr8:89991753..89993924-chr8:90002901..90005604,2	MCF-7	breast:
2	chr8:89993652..89996623-chr8:90001684..90003388,2	MCF-7	breast:

Extended variants
information (count: 170 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs148507897	chr8:90001808-90001809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576186159	chr8:90001814-90001815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571427705	chr8:90001902-90001903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80108527	chr8:90001910-90001911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536727134	chr8:90001944-90001945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565543634	chr8:90002045-90002046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569987557	chr8:90002053-90002054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536091596	chr8:90002062-90002063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142722654	chr8:90002065-90002066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576121404	chr8:90002070-90002071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530931092	chr8:90002084-90002085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117455459	chr8:90002094-90002095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558546909	chr8:90002095-90002096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570590305	chr8:90002104-90002105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534486137	chr8:90002120-90002121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1565148	chr8:90002125-90002126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541754158	chr8:90002164-90002165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559938623	chr8:90002195-90002196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530313707	chr8:90002286-90002287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568004893	chr8:90002324-90002325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542479243	chr8:90002339-90002340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181588284	chr8:90002464-90002465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556524891	chr8:90002475-90002476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535324593	chr8:90002509-90002510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74580417	chr8:90002525-90002526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570836377	chr8:90002537-90002538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575146781	chr8:90002546-90002547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532229104	chr8:90002558-90002559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547289152	chr8:90002565-90002566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565680661	chr8:90002607-90002608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536022745	chr8:90002608-90002609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187114732	chr8:90002610-90002611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562770051	chr8:90002619-90002620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151006423	chr8:90002651-90002652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191649636	chr8:90002708-90002709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558224742	chr8:90002814-90002815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576909769	chr8:90002825-90002826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541073894	chr8:90002828-90002829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141081112	chr8:90002839-90002840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575242044	chr8:90002845-90002846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545594138	chr8:90002848-90002849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62534091	chr8:90002857-90002858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373158854	chr8:90002861-90002862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577563092	chr8:90002892-90002893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182278498	chr8:90002935-90002936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372691931	chr8:90003016-90003017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144800267	chr8:90003084-90003085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187194856	chr8:90003184-90003185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10504870	chr8:90003188-90003189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559948744	chr8:90003216-90003217	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
Autism	22495311	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Acute lymphoblastic leukemia	18458336	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
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90001800-90002200	Enhancers	HSMMtube	muscle
2	chr8:90002000-90002200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:90002200-90002400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:90002200-90002800	Enhancers	Hela-S3	cervix
5	chr8:90002400-90003200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:90002800-90005800	Weak transcription	Hela-S3	cervix
7	chr8:90003200-90003600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr8:90003400-90004400	Enhancers	Fetal Heart	heart
9	chr8:90003600-90004800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:90003800-90004400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:90004000-90004400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:90004000-90004600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:90004000-90004800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:90004800-90005400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr8:90005800-90006400	Enhancers	Hela-S3	cervix

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