Variant report

Variant	nsv1030263
Chromosome Location	chr8:85293666-85332024
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	chr8:85292926..85294703-chr8:85297924..85300749,2	K562	blood:
2	chr8:85292926..85294703-chr8:85297924..85300749,2	K562	blood:

Extended variants
information (count: 287 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544965399	chr8:85297803-85297804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533618666	chr8:85297832-85297833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188543862	chr8:85297870-85297871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560137946	chr8:85297885-85297886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181384766	chr8:85297887-85297888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539363922	chr8:85297894-85297895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556378536	chr8:85297909-85297910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185232846	chr8:85297913-85297914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563432905	chr8:85297953-85297954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200306244	chr8:85297965-85297966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531663375	chr8:85297977-85297978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182053671	chr8:85297982-85297983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73298773	chr8:85298023-85298024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575015947	chr8:85298061-85298062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540728521	chr8:85298092-85298093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148961260	chr8:85298187-85298188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377285077	chr8:85303224-85303225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184394232	chr8:85303248-85303249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540595827	chr8:85303268-85303269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560806064	chr8:85303318-85303319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114475910	chr8:85303329-85303330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561376568	chr8:85303358-85303359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7834453	chr8:85303400-85303401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs16912783	chr8:85303403-85303404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7816160	chr8:85303408-85303409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567739328	chr8:85303409-85303410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533747959	chr8:85303459-85303460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189277967	chr8:85303476-85303477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570751450	chr8:85303488-85303489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7819778	chr8:85303537-85303538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181857995	chr8:85303549-85303550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556438687	chr8:85303562-85303563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7820097	chr8:85303565-85303566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7838135	chr8:85303599-85303600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555075165	chr8:85303606-85303607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186105394	chr8:85303709-85303710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141210173	chr8:85303736-85303737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143627526	chr8:85303740-85303741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369332579	chr8:85303761-85303762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189342148	chr8:85303765-85303766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371082915	chr8:85303945-85303946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7820544	chr8:85303949-85303950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181451061	chr8:85303961-85303962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185937511	chr8:85304076-85304077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527374272	chr8:85304079-85304080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73300751	chr8:85304088-85304089	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570345382	chr8:85304101-85304102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568922351	chr8:85304167-85304168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191362513	chr8:85304205-85304206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145605632	chr8:85304293-85304294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	22237106	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
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85297800-85298200	Enhancers	H9 Cell Line	embryonic stem cell
2	chr8:85303200-85304000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:85303200-85304200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:85303800-85304400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:85304000-85305600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:85304000-85309400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:85304200-85304800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:85304400-85305200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:85304800-85305000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:85305000-85309200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:85305200-85305400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:85309200-85309400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:85309200-85309600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:85309400-85310000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:85319200-85319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:85319200-85319600	Enhancers	Fetal Brain Male	brain
17	chr8:85324800-85325200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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