Variant report

Variant	nsv968516
Chromosome Location	chr8:88754170-88760731
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	chr8:88752001..88754722-chr8:88761392..88764098,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577382021	chr8:88759600-88759601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538756371	chr8:88759655-88759656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570204767	chr8:88759694-88759695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7827917	chr8:88759706-88759707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs373914587	chr8:88759726-88759727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530452130	chr8:88759756-88759757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141765445	chr8:88759768-88759769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542697630	chr8:88759785-88759786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561320567	chr8:88759836-88759837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13439375	chr8:88759846-88759847	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs544103199	chr8:88759870-88759871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570471162	chr8:88759907-88759908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12549708	chr8:88759973-88759974	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs75333536	chr8:88759981-88759982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532714800	chr8:88759991-88759992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551505982	chr8:88760034-88760035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560028881	chr8:88760056-88760057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13256471	chr8:88760083-88760084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548728161	chr8:88760167-88760168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12549752	chr8:88760185-88760186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146253687	chr8:88760262-88760263	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs141203424	chr8:88760276-88760277	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181390537	chr8:88760287-88760288	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538493903	chr8:88760361-88760362	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs555512035	chr8:88760389-88760390	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs117391161	chr8:88760459-88760460	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536729109	chr8:88760497-88760498	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs116614360	chr8:88760502-88760503	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576353350	chr8:88760523-88760524	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs72673112	chr8:88760576-88760577	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559249572	chr8:88760598-88760599	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577601108	chr8:88760643-88760644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186903036	chr8:88760704-88760705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:88759600-88760200	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr8:88759600-88761200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:88759800-88760000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:88759800-88760000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr8:88759800-88760000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:88759800-88760000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:88759800-88760000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:88759800-88760600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:88759800-88760800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:88760000-88763000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:88760000-88766200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:88760000-88768000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:88760000-88770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:88760200-88760600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr8:88760200-88760800	Enhancers	HUES64 Cell Line	embryonic stem cell

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