Variant report

Variant	esv1794358
Chromosome Location	chr8:5769090-5776436
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	MAFF	chr8:5769203-5769430	HepG2	liver:	n/a	chr8:5769301-5769319
2	MAFK	chr8:5769189-5769458	HepG2	liver:	n/a	chr8:5769307-5769318 chr8:5769302-5769318 chr8:5769307-5769318 chr8:5769298-5769315 chr8:5769302-5769317
3	MAFK	chr8:5769268-5769361	Hela-S3	cervix:	n/a	chr8:5769307-5769318 chr8:5769302-5769318 chr8:5769307-5769318 chr8:5769298-5769315 chr8:5769302-5769317
4	MAFK	chr8:5769182-5769420	HepG2	liver:	n/a	chr8:5769307-5769318 chr8:5769302-5769318 chr8:5769307-5769318 chr8:5769298-5769315 chr8:5769302-5769317
5	MAZ	chr8:5774950-5774988	GM12878	blood:	n/a	n/a
6	STAT3	chr8:5775961-5776082	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:5775799..5778570-chr8:6262790..6264825,2	K562	blood:

Variant related genes	Relation type
RN7SKP159	TF binding region
ENSG00000246089	chromatin interactions
ENSG00000147316	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192969512	chr8:5769207-5769208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200439404	chr8:5769220-5769221	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558606510	chr8:5769222-5769223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs576809244	chr8:5769241-5769242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs544216448	chr8:5769268-5769269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs563980549	chr8:5769310-5769311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575961550	chr8:5769326-5769327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543263359	chr8:5769344-5769345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs183735670	chr8:5769363-5769364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs528668146	chr8:5769384-5769385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73660225	chr8:5769397-5769398	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs565378937	chr8:5769398-5769399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs532413345	chr8:5769421-5769422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs550524111	chr8:5769435-5769436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs568817071	chr8:5769437-5769438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs2840446	chr8:5769441-5769442	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188591651	chr8:5769449-5769450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs548381486	chr8:5769450-5769451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs548320953	chr8:5772602-5772603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13273048	chr8:5772611-5772612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533839630	chr8:5772626-5772627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374696860	chr8:5772639-5772640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530677689	chr8:5772649-5772650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189382184	chr8:5772651-5772652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561558777	chr8:5772659-5772660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570507751	chr8:5772715-5772716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537828868	chr8:5772737-5772738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78840966	chr8:5772742-5772743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575847342	chr8:5772748-5772749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542873488	chr8:5772751-5772752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575492883	chr8:5772760-5772761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555109473	chr8:5772775-5772776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142740734	chr8:5772800-5772801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540356072	chr8:5772838-5772839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180761275	chr8:5772857-5772858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186122672	chr8:5772867-5772868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368788595	chr8:5772871-5772872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12679539	chr8:5772876-5772877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs146101571	chr8:5772913-5772914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562646175	chr8:5772925-5772926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373961729	chr8:5772939-5772940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12679549	chr8:5772947-5772948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548100611	chr8:5772964-5772965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376301469	chr8:5773007-5773008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532967100	chr8:5773008-5773009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527477285	chr8:5773010-5773011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191145942	chr8:5773020-5773021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570518332	chr8:5773038-5773039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537843267	chr8:5773042-5773043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12679571	chr8:5773051-5773052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:125)

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
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
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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5772600-5774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:5773000-5774800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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