Variant report

Variant	nsv982139
Chromosome Location	chr8:106041388-106058113
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	chr8:106021613..106024219-chr8:106053554..106055959,2	MCF-7	breast:
2	chr8:106057531..106060306-chr8:106071260..106074898,3	K562	blood:

Variant related genes	Relation type
ENSG00000240271	chromatin interactions

Extended variants
information (count: 274 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:274 , 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	rs285848	chr8:106051402-106051403	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556714932	chr8:106051416-106051417	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180819029	chr8:106051421-106051422	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185480639	chr8:106051424-106051425	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555874541	chr8:106051432-106051433	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191028858	chr8:106051445-106051446	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370787968	chr8:106051449-106051450	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs285847	chr8:106051463-106051464	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183222028	chr8:106051485-106051486	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546305941	chr8:106051489-106051490	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79517442	chr8:106051514-106051515	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553428208	chr8:106051527-106051528	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75781200	chr8:106051537-106051538	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578245321	chr8:106051554-106051555	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373305839	chr8:106051555-106051556	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368916553	chr8:106051566-106051567	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111567132	chr8:106051584-106051585	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12540998	chr8:106051614-106051615	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563865813	chr8:106051664-106051665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs531183400	chr8:106051755-106051756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs542857271	chr8:106051762-106051763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551687984	chr8:106051763-106051764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs188815101	chr8:106051766-106051767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560998329	chr8:106051782-106051783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs34631843	chr8:106051798-106051799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528188685	chr8:106051814-106051815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35248455	chr8:106051887-106051888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542199499	chr8:106051922-106051923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561189382	chr8:106052013-106052014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372642957	chr8:106052109-106052110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200607937	chr8:106052146-106052147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144634017	chr8:106052148-106052149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532257585	chr8:106052149-106052150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57153454	chr8:106052150-106052151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550499824	chr8:106052161-106052162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200296748	chr8:106052174-106052175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374080098	chr8:106052179-106052180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568952605	chr8:106052189-106052190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372308589	chr8:106052191-106052192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529965901	chr8:106052221-106052222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549795007	chr8:106052230-106052231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567723834	chr8:106052241-106052242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535153810	chr8:106052277-106052278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200246915	chr8:106052286-106052287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35073185	chr8:106052287-106052288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397891630	chr8:106052295-106052296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553389379	chr8:106052328-106052329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532205986	chr8:106052333-106052334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3101274	chr8:106052343-106052344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs145017954	chr8:106052364-106052365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
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
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
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
Multiple myeloma	16461302	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106051400-106051600	Enhancers	K562	blood
2	chr8:106051400-106051800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:106051800-106058200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:106057600-106057800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:106057800-106058600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:106058000-106058200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:106058000-106058400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:106058000-106058800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:106058000-106058800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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