Variant report

Variant	nsv526917
Chromosome Location	chr8:90166429-90201937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90188779..90190304-chr8:90190359..90192960,2	MCF-7	breast:
2	chr8:90197316..90199111-chr8:90201363..90203409,2	MCF-7	breast:
3	chr8:90197316..90199111-chr8:90201363..90203409,2	MCF-7	breast:
4	chr8:90188779..90190304-chr8:90190359..90192960,2	MCF-7	breast:

Extended variants
information (count: 283 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:283 , 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	rs190040421	chr8:90174851-90174852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569973467	chr8:90174878-90174879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73288143	chr8:90174896-90174897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542786870	chr8:90174912-90174913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145204795	chr8:90174929-90174930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs118016958	chr8:90174976-90174977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367879039	chr8:90175062-90175063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181868770	chr8:90175121-90175122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543505798	chr8:90175122-90175123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186595596	chr8:90175130-90175131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532362199	chr8:90175133-90175134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558769728	chr8:90175156-90175157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139034119	chr8:90175163-90175164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566627178	chr8:90175164-90175165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527560662	chr8:90175173-90175174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs318293	chr8:90175190-90175191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567459370	chr8:90175194-90175195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370651788	chr8:90175223-90175224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs113580569	chr8:90175229-90175230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75063728	chr8:90175271-90175272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564246615	chr8:90175287-90175288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571330754	chr8:90175293-90175294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189818243	chr8:90175302-90175303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs180707459	chr8:90175335-90175336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs571739687	chr8:90175336-90175337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs185972520	chr8:90175347-90175348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs57479582	chr8:90175362-90175363	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576180514	chr8:90175368-90175369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs386727610	chr8:90175372-90175373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191315755	chr8:90175373-90175374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs6986284	chr8:90175391-90175392	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541194075	chr8:90175396-90175397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs183069566	chr8:90175422-90175423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs78306130	chr8:90175437-90175438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs117658676	chr8:90175438-90175439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs532393029	chr8:90175444-90175445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs531496447	chr8:90175445-90175446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs118173039	chr8:90175453-90175454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs117917232	chr8:90175454-90175455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538708319	chr8:90175462-90175463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs80035833	chr8:90175463-90175464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs547213648	chr8:90175477-90175478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565331373	chr8:90175500-90175501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553790367	chr8:90175525-90175526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535845522	chr8:90175555-90175556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554799449	chr8:90175563-90175564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs199657222	chr8:90175594-90175595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537495495	chr8:90184619-90184620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188305891	chr8:90184673-90184674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577302110	chr8:90184683-90184684	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90174800-90175200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:90175200-90175600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:90175200-90175600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:90175200-90175600	ZNF genes & repeats	Pancreas	Pancrea
5	chr8:90184600-90185400	Enhancers	Hela-S3	cervix
6	chr8:90185000-90185400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:90185400-90187200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:90187200-90187600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:90188800-90191000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:90189600-90190400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:90190200-90190800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr8:90191000-90191200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:90191200-90191600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:90201200-90202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:90201600-90202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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