Variant report

Variant	esv3497521
Chromosome Location	chr8:1408895-1411161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1408127..1410812-chr8:1426769..1429337,2	K562	blood:
2	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:
3	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:
4	chr8:1403515..1406452-chr8:1410045..1411937,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549691603	chr8:1408900-1408901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568905081	chr8:1408957-1408958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531633162	chr8:1408959-1408960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537890339	chr8:1408960-1408961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551758324	chr8:1409014-1409015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183690948	chr8:1409051-1409052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114073423	chr8:1409055-1409056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117861937	chr8:1409065-1409066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139088400	chr8:1409083-1409084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12544724	chr8:1409124-1409125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577033249	chr8:1409131-1409132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79879663	chr8:1409145-1409146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544631450	chr8:1409156-1409157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149907324	chr8:1409161-1409162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572011067	chr8:1409181-1409182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188749791	chr8:1409185-1409186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560726257	chr8:1409186-1409187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529883166	chr8:1409203-1409204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559080344	chr8:1409211-1409212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574197046	chr8:1409215-1409216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371033301	chr8:1409235-1409236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12542079	chr8:1409268-1409269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201257782	chr8:1409287-1409288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28629839	chr8:1409293-1409294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201858984	chr8:1409294-1409295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371698916	chr8:1409295-1409296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113572955	chr8:1409367-1409368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374854490	chr8:1409376-1409377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532297729	chr8:1409399-1409400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367993225	chr8:1409400-1409401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551455665	chr8:1409426-1409427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571525541	chr8:1409433-1409434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13265559	chr8:1409434-1409435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571652394	chr8:1409449-1409450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75785525	chr8:1409457-1409458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78571299	chr8:1409458-1409459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112050765	chr8:1409462-1409463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113049954	chr8:1409480-1409481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28462338	chr8:1409482-1409483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77037892	chr8:1409533-1409534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76238391	chr8:1409540-1409541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76549270	chr8:1409568-1409569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527762408	chr8:1409569-1409570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547917235	chr8:1409572-1409573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567851764	chr8:1409573-1409574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376550301	chr8:1409599-1409600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536802911	chr8:1409621-1409622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55974631	chr8:1409649-1409650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369445897	chr8:1409706-1409707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556797742	chr8:1409727-1409728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1404200-1411600	Weak transcription	Spleen	Spleen
2	chr8:1405200-1412200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1410400-1411800	Weak transcription	Right Atrium	heart
4	chr8:1410800-1412200	Enhancers	Left Ventricle	heart
5	chr8:1410800-1412400	Enhancers	Skeletal Muscle Male	skeletal muscle

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