Variant report

Variant	esv3402072
Chromosome Location	chr8:3695244-3697942
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	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184170642	chr8:3695249-3695250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371410411	chr8:3695264-3695265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575892522	chr8:3695266-3695267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542856185	chr8:3695274-3695275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148618626	chr8:3695287-3695288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142098248	chr8:3695291-3695292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141741859	chr8:3695305-3695306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540698672	chr8:3695317-3695318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557915669	chr8:3695330-3695331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78092839	chr8:3695336-3695337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7008238	chr8:3695346-3695347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544985385	chr8:3695347-3695348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563474750	chr8:3695348-3695349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530783999	chr8:3695352-3695353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549199363	chr8:3695377-3695378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561148639	chr8:3695600-3695601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185248431	chr8:3695608-3695609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528245851	chr8:3695621-3695622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563069405	chr8:3695625-3695626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565279883	chr8:3695635-3695636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532600522	chr8:3695650-3695651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367964012	chr8:3695670-3695671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550703507	chr8:3695678-3695679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186985529	chr8:3695679-3695680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536564987	chr8:3695697-3695698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191813148	chr8:3695712-3695713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74390854	chr8:3695713-3695714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7008525	chr8:3695736-3695737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6987809	chr8:3695765-3695766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547503157	chr8:3695781-3695782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577667041	chr8:3695795-3695796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78782658	chr8:3697216-3697217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545434987	chr8:3697232-3697233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73172272	chr8:3697253-3697254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73506779	chr8:3697257-3697258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77352446	chr8:3697282-3697283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142091530	chr8:3697289-3697290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574323964	chr8:3697323-3697324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536654247	chr8:3697331-3697332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185002409	chr8:3697345-3697346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572436538	chr8:3697366-3697367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189858983	chr8:3697373-3697374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573020434	chr8:3697380-3697381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78429048	chr8:3697383-3697384	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3694400-3695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:3695600-3695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:3697200-3697400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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