Variant report

Variant	esv20177
Chromosome Location	chr8:1336193-1340893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 354 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188138948	chr8:1336210-1336211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114774346	chr8:1336218-1336219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181288769	chr8:1336225-1336226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540729206	chr8:1336232-1336233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568736300	chr8:1336234-1336235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11997070	chr8:1336238-1336239	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557615738	chr8:1336245-1336246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546493262	chr8:1336261-1336262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149583106	chr8:1336269-1336270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34187305	chr8:1336276-1336277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34474905	chr8:1336283-1336284	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555730439	chr8:1336284-1336285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568454001	chr8:1336295-1336296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112384587	chr8:1336304-1336305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78737522	chr8:1336306-1336307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398095547	chr8:1336307-1336308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61340427	chr8:1336319-1336320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60996640	chr8:1336327-1336328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34601841	chr8:1336334-1336335	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376276325	chr8:1336361-1336362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199614833	chr8:1336363-1336364	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34286659	chr8:1336367-1336368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34774397	chr8:1336368-1336369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114023889	chr8:1336370-1336371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34267685	chr8:1336394-1336395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35995732	chr8:1336408-1336409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372728131	chr8:1336412-1336413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111726363	chr8:1336418-1336419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35242411	chr8:1336419-1336420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577278102	chr8:1336436-1336437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113132796	chr8:1336445-1336446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35019972	chr8:1336463-1336464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34207851	chr8:1336469-1336470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113705933	chr8:1336473-1336474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76434434	chr8:1336480-1336481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371208548	chr8:1336484-1336485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13267406	chr8:1336486-1336487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34888523	chr8:1336520-1336521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573573264	chr8:1336521-1336522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13260264	chr8:1336524-1336525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113688101	chr8:1336538-1336539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55983741	chr8:1336578-1336579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113910868	chr8:1336581-1336582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200655364	chr8:1336585-1336586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573412147	chr8:1336587-1336588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112612040	chr8:1336588-1336589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542104594	chr8:1336595-1336596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113472951	chr8:1336597-1336598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562086404	chr8:1336611-1336612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530424151	chr8:1336615-1336616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1315800-1336800	Weak transcription	Right Atrium	heart
2	chr8:1335600-1336400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:1336000-1336200	Enhancers	Fetal Brain Male	brain
4	chr8:1336000-1336200	Enhancers	Spleen	Spleen
5	chr8:1336000-1337200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:1336200-1337600	Weak transcription	Fetal Brain Male	brain
7	chr8:1336400-1338800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:1337200-1338000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:1337200-1338600	Bivalent Enhancer	Fetal Stomach	stomach
10	chr8:1337400-1337600	Enhancers	Brain Anterior Caudate	brain
11	chr8:1337400-1337800	Enhancers	Fetal Muscle Trunk	muscle
12	chr8:1337600-1339000	Enhancers	Fetal Brain Male	brain
13	chr8:1337800-1338200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr8:1337800-1338600	Enhancers	Fetal Brain Female	brain
15	chr8:1338000-1340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:1340400-1340600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:1340400-1340600	Enhancers	Stomach Smooth Muscle	stomach

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