Variant report

Variant	nsv1016875
Chromosome Location	chr8:90121459-90175887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90120174..90121731-chr8:90128653..90130886,2	MCF-7	breast:
2	chr8:90120174..90121731-chr8:90128653..90130886,2	MCF-7	breast:
3	chr8:90130870..90133130-chr8:90133939..90135476,2	MCF-7	breast:
4	chr8:90130870..90133130-chr8:90133939..90135476,2	MCF-7	breast:

Extended variants
information (count: 353 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77017303	chr8:90123031-90123032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs537099894	chr8:90123055-90123056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs374726255	chr8:90123072-90123073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549131288	chr8:90123086-90123087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200336418	chr8:90123097-90123098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs78538181	chr8:90123106-90123107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs142244425	chr8:90123107-90123108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138848389	chr8:90123179-90123180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189761421	chr8:90123204-90123205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182426842	chr8:90123234-90123235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs140534666	chr8:90123264-90123265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542204543	chr8:90123343-90123344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs542209390	chr8:90123367-90123368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557124083	chr8:90123380-90123381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs7462065	chr8:90132402-90132403	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs187233076	chr8:90132442-90132443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190657370	chr8:90132465-90132466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573437712	chr8:90132476-90132477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543785854	chr8:90132482-90132483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574537417	chr8:90132510-90132511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552265682	chr8:90132522-90132523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78324956	chr8:90132526-90132527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144272291	chr8:90132563-90132564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113535414	chr8:90132581-90132582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145214556	chr8:90132681-90132682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369283468	chr8:90132691-90132692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560450469	chr8:90132707-90132708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527902158	chr8:90132743-90132744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549631527	chr8:90132757-90132758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567740270	chr8:90132846-90132847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538389302	chr8:90132853-90132854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549897446	chr8:90132857-90132858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112411672	chr8:90132872-90132873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs58710312	chr8:90132893-90132894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78399038	chr8:90132902-90132903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574759267	chr8:90132919-90132920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12114392	chr8:90132961-90132962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533725509	chr8:90132991-90132992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114050334	chr8:90133006-90133007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573400862	chr8:90133019-90133020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543946264	chr8:90133025-90133026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376543697	chr8:90133137-90133138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397701129	chr8:90133146-90133147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562296484	chr8:90133172-90133173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184073530	chr8:90137028-90137029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78648681	chr8:90137039-90137040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187288933	chr8:90137062-90137063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199819527	chr8:90137091-90137092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3074711	chr8:90137092-90137093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368621246	chr8:90137093-90137094	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
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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90123000-90123400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:90132400-90132800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:90132400-90133200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:90132800-90133200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:90132800-90133200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:90132800-90133200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:90137000-90137400	Enhancers	Fetal Heart	heart
8	chr8:90140000-90141800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:90140200-90141200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:90140400-90141200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:90140400-90141400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:90140800-90141000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:90140800-90141200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:90140800-90141200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:90140800-90141800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:90141000-90141400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:90141600-90141800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:90156000-90156200	Enhancers	Hela-S3	cervix
19	chr8:90156400-90157600	Weak transcription	Hela-S3	cervix
20	chr8:90157600-90158000	Enhancers	Hela-S3	cervix
21	chr8:90157600-90158000	Enhancers	NHDF-Ad	bronchial
22	chr8:90162200-90163400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:90163000-90163600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:90163400-90163800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr8:90163400-90163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:90163400-90164000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:90163400-90164000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:90163400-90164200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:90163400-90164200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:90163600-90163800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr8:90163800-90164200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:90174800-90175200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:90175200-90175600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:90175200-90175600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:90175200-90175600	ZNF genes & repeats	Pancreas	Pancrea

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