Variant report

Variant	esv3357414
Chromosome Location	chr8:3549344-3553542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:3553527-3553965	H1-neurons	neurons:	n/a	n/a
2	REST	chr8:3553420-3553877	H1-neurons	neurons:	n/a	n/a
3	SUZ12	chr8:3551293-3551583	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RNA5SP251	TF binding region

Extended variants
information (count: 314 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113291996	chr8:3549357-3549358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562280576	chr8:3549362-3549363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183684295	chr8:3549363-3549364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547632991	chr8:3549365-3549366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187956542	chr8:3549377-3549378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191904407	chr8:3549383-3549384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566364800	chr8:3549397-3549398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139392005	chr8:3549403-3549404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs118148878	chr8:3549406-3549407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76904276	chr8:3549424-3549425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555181430	chr8:3549434-3549435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2624071	chr8:3549438-3549439	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550031859	chr8:3549447-3549448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369967840	chr8:3549489-3549490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542325527	chr8:3549492-3549493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568403166	chr8:3549497-3549498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183717516	chr8:3549499-3549500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144117370	chr8:3549525-3549526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572529020	chr8:3549529-3549530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186683191	chr8:3549532-3549533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372603625	chr8:3549535-3549536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191495857	chr8:3549562-3549563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115898955	chr8:3549565-3549566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543494503	chr8:3549566-3549567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557392512	chr8:3549571-3549572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7837233	chr8:3549581-3549582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs146487863	chr8:3549597-3549598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541187715	chr8:3549602-3549603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559537191	chr8:3549619-3549620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185411633	chr8:3549622-3549623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534099408	chr8:3549656-3549657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57376617	chr8:3549667-3549668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531326087	chr8:3549675-3549676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143719296	chr8:3549677-3549678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190658767	chr8:3549688-3549689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535755369	chr8:3549694-3549695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547577396	chr8:3549698-3549699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151056192	chr8:3549718-3549719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199588479	chr8:3549725-3549726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181715024	chr8:3549731-3549732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539291636	chr8:3549737-3549738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558225043	chr8:3549740-3549741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576509170	chr8:3549744-3549745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143769538	chr8:3549763-3549764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540960724	chr8:3549784-3549785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555352009	chr8:3549787-3549788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560714212	chr8:3549795-3549796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547700989	chr8:3550001-3550002	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566021894	chr8:3550013-3550014	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs2623599	chr8:3550014-3550015	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Ovarian cancer	22355333	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
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3549200-3549800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:3549200-3549800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr8:3550000-3550200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:3550200-3551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:3551400-3552400	Enhancers	Fetal Muscle Leg	muscle
6	chr8:3551600-3552400	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:3551800-3552400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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