Variant report

Variant	esv3400383
Chromosome Location	chr8:3694969-3697517
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: 74 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551556509	chr8:3694973-3694974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186409074	chr8:3694986-3694987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537235047	chr8:3694987-3694988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190121537	chr8:3694991-3694992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574176561	chr8:3695002-3695003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116054577	chr8:3695005-3695006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547856585	chr8:3695007-3695008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141757087	chr8:3695028-3695029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146259732	chr8:3695043-3695044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55982038	chr8:3695053-3695054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59120233	chr8:3695057-3695058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575785985	chr8:3695065-3695066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78167595	chr8:3695085-3695086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139410533	chr8:3695086-3695087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144171856	chr8:3695098-3695099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528948458	chr8:3695102-3695103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182073060	chr8:3695109-3695110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11777359	chr8:3695136-3695137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533279558	chr8:3695140-3695141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186807935	chr8:3695141-3695142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10216665	chr8:3695148-3695149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143865541	chr8:3695151-3695152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371470586	chr8:3695159-3695160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567767587	chr8:3695163-3695164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35462974	chr8:3695172-3695173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190890700	chr8:3695201-3695202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375714639	chr8:3695212-3695213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553422140	chr8:3695229-3695230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571513785	chr8:3695239-3695240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11776649	chr8:3695241-3695242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184170642	chr8:3695249-3695250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371410411	chr8:3695264-3695265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575892522	chr8:3695266-3695267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542856185	chr8:3695274-3695275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148618626	chr8:3695287-3695288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142098248	chr8:3695291-3695292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141741859	chr8:3695305-3695306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540698672	chr8:3695317-3695318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557915669	chr8:3695330-3695331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78092839	chr8:3695336-3695337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7008238	chr8:3695346-3695347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544985385	chr8:3695347-3695348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563474750	chr8:3695348-3695349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530783999	chr8:3695352-3695353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549199363	chr8:3695377-3695378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561148639	chr8:3695600-3695601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185248431	chr8:3695608-3695609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528245851	chr8:3695621-3695622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563069405	chr8:3695625-3695626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565279883	chr8:3695635-3695636	Weak transcription	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:4 , 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	chr8:3694800-3695200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:3695600-3695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:3697200-3697400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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