Variant report

Variant	nsv527486
Chromosome Location	chr8:54194232-54210129
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	chr8:54193004..54195448-chr8:54197380..54199028,2	K562	blood:
2	chr8:54193004..54195448-chr8:54197380..54199028,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7007099	chr8:54197607-54197608	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189440141	chr8:54197614-54197615	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs77972052	chr8:54197647-54197648	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs545999482	chr8:54197651-54197652	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs530771859	chr8:54197669-54197670	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs562720564	chr8:54197785-54197786	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs76906357	chr8:54197794-54197795	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs181400646	chr8:54197857-54197858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562021695	chr8:54197903-54197904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527655508	chr8:54197905-54197906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547783424	chr8:54197913-54197914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139921224	chr8:54197925-54197926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144086308	chr8:54197926-54197927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549958134	chr8:54197930-54197931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569620905	chr8:54197963-54197964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368493366	chr8:54198006-54198007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535780459	chr8:54198018-54198019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561392586	chr8:54198037-54198038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531055214	chr8:54198057-54198058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535662701	chr8:54198144-54198145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372001982	chr8:54198168-54198169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114412339	chr8:54198169-54198170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184202740	chr8:54198187-54198188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553759787	chr8:54198189-54198190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188482731	chr8:54198221-54198222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539583928	chr8:54198271-54198272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556306199	chr8:54198275-54198276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576259965	chr8:54198377-54198378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542027335	chr8:54198396-54198397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561797383	chr8:54198431-54198432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1365099	chr8:54198574-54198575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541042294	chr8:54198762-54198763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564186175	chr8:54198763-54198764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566162028	chr8:54198765-54198766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147335423	chr8:54198920-54198921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181661655	chr8:54198929-54198930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139860004	chr8:54198958-54198959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113755088	chr8:54199071-54199072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554077568	chr8:54199110-54199111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186828171	chr8:54199111-54199112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192062871	chr8:54199114-54199115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566221339	chr8:54199155-54199156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149818108	chr8:54199165-54199166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182395805	chr8:54199201-54199202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570422867	chr8:54199206-54199207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112857557	chr8:54199270-54199271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536615065	chr8:54199275-54199276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111917970	chr8:54199317-54199318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10542128	chr8:54199338-54199339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369420093	chr8:54199339-54199340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54197600-54197800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr8:54197600-54197800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
3	chr8:54197800-54199400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:54199400-54199800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:54199400-54200400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:54199600-54199800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr8:54199600-54200000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:54199600-54200000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:54199600-54200000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:54199600-54200400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:54199600-54200400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:54208600-54209800	Enhancers	Placenta	Placenta

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