Variant report

Variant	nsv1023825
Chromosome Location	chr8:52668824-52716137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:52652822..52654740-chr8:52669387..52671490,2	MCF-7	breast:
2	chr8:52682656..52685622-chr8:52689821..52692010,2	K562	blood:
3	chr8:52682656..52685622-chr8:52689821..52692010,2	K562	blood:

Extended variants
information (count: 1772 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1772 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558404340	chr8:52668825-52668826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570127727	chr8:52668845-52668846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537407745	chr8:52668954-52668955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555842440	chr8:52668965-52668966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199827186	chr8:52668967-52668968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368250038	chr8:52668968-52668969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184767781	chr8:52669002-52669003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554896362	chr8:52669094-52669095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376391659	chr8:52669122-52669123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573361116	chr8:52669221-52669222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200254197	chr8:52669354-52669355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143487969	chr8:52669363-52669364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575916397	chr8:52669365-52669366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565539909	chr8:52669381-52669382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532555996	chr8:52669390-52669391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544366702	chr8:52669392-52669393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146743230	chr8:52669479-52669480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139531557	chr8:52669516-52669517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548641989	chr8:52669530-52669531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34152859	chr8:52669563-52669564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs149976455	chr8:52669566-52669567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550813649	chr8:52669626-52669627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561344116	chr8:52669638-52669639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529783902	chr8:52669658-52669659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552061844	chr8:52669732-52669733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373948297	chr8:52669754-52669755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570365566	chr8:52669785-52669786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537745295	chr8:52669891-52669892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145271186	chr8:52669926-52669927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189991046	chr8:52669931-52669932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540324912	chr8:52669945-52669946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535223087	chr8:52669969-52669970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541896579	chr8:52669974-52669975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573369299	chr8:52669975-52669976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181623825	chr8:52669983-52669984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559194519	chr8:52670019-52670020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577656139	chr8:52670025-52670026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113379273	chr8:52670026-52670027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184485174	chr8:52670068-52670069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530078255	chr8:52670070-52670071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142427040	chr8:52670092-52670093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530168820	chr8:52670104-52670105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560592096	chr8:52670114-52670115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6473653	chr8:52670122-52670123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546179564	chr8:52670173-52670174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563930243	chr8:52670181-52670182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370559046	chr8:52670372-52670373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189586737	chr8:52670378-52670379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181887379	chr8:52670469-52670470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34841228	chr8:52670472-52670473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Pancreatic endocrine tumor	17639061	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
low-grade B-cell lymphoma tumor	18367492	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
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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52661400-52671400	Weak transcription	Right Atrium	heart
2	chr8:52661400-52683200	Weak transcription	Left Ventricle	heart
3	chr8:52666400-52675800	Weak transcription	Right Ventricle	heart
4	chr8:52671400-52671800	Enhancers	Right Atrium	heart
5	chr8:52671400-52672000	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr8:52671600-52672200	Enhancers	Fetal Muscle Leg	muscle
7	chr8:52671600-52673200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:52671800-52681800	Weak transcription	Right Atrium	heart
9	chr8:52672200-52672400	Enhancers	Fetal Lung	lung
10	chr8:52672400-52673000	Enhancers	Brain Hippocampus Middle	brain
11	chr8:52673000-52673200	Enhancers	Fetal Lung	lung
12	chr8:52675800-52676200	Enhancers	Right Ventricle	heart
13	chr8:52676200-52682600	Weak transcription	Right Ventricle	heart
14	chr8:52679800-52680800	Enhancers	GM12878-XiMat	blood
15	chr8:52680800-52681600	Weak transcription	GM12878-XiMat	blood
16	chr8:52681600-52682600	Enhancers	GM12878-XiMat	blood
17	chr8:52681800-52683400	Enhancers	Right Atrium	heart
18	chr8:52682400-52682600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:52682400-52684200	Enhancers	Gastric	stomach
20	chr8:52682600-52682800	Enhancers	Right Ventricle	heart
21	chr8:52682600-52683800	Enhancers	Fetal Lung	lung
22	chr8:52682800-52683400	Weak transcription	Right Ventricle	heart
23	chr8:52683200-52683800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:52683200-52686200	Enhancers	Left Ventricle	heart
25	chr8:52683400-52684000	Active TSS	Right Atrium	heart
26	chr8:52683400-52684200	Enhancers	Stomach Mucosa	stomach
27	chr8:52683400-52684800	Enhancers	Pancreas	Pancrea
28	chr8:52683400-52685600	Enhancers	Right Ventricle	heart
29	chr8:52683800-52684200	Flanking Active TSS	Fetal Lung	lung
30	chr8:52684000-52686000	Enhancers	Right Atrium	heart
31	chr8:52684200-52685400	Enhancers	Fetal Lung	lung
32	chr8:52684800-52691800	Weak transcription	Pancreas	Pancrea
33	chr8:52685400-52686200	Enhancers	Fetal Muscle Leg	muscle
34	chr8:52685600-52686000	Weak transcription	Right Ventricle	heart
35	chr8:52685800-52686000	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr8:52685800-52686200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:52685800-52686200	Enhancers	Psoas Muscle	Psoas
38	chr8:52685800-52686200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:52686000-52686200	Enhancers	Right Ventricle	heart
40	chr8:52686000-52686200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr8:52686000-52691800	Weak transcription	Right Atrium	heart
42	chr8:52686200-52691800	Weak transcription	Left Ventricle	heart
43	chr8:52686200-52703000	Weak transcription	Right Ventricle	heart
44	chr8:52691800-52692000	Enhancers	Left Ventricle	heart
45	chr8:52691800-52692200	ZNF genes & repeats	Pancreas	Pancrea
46	chr8:52691800-52692600	Enhancers	Right Atrium	heart
47	chr8:52692000-52692400	Genic enhancers	Left Ventricle	heart
48	chr8:52692200-52696000	Weak transcription	Pancreas	Pancrea
49	chr8:52692400-52694400	Weak transcription	Left Ventricle	heart
50	chr8:52692600-52694400	Weak transcription	Right Atrium	heart

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