Variant report

Variant	esv3419180
Chromosome Location	chr8:10530792-10533290
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	CEBPB	chr8:10532514-10533090	MCF-7	breast:	n/a	n/a
2	CEBPB	chr8:10532907-10532950	HepG2	liver:	n/a	n/a
3	FOS	chr8:10533166-10533167	MCF10A-Er-Src	breast:	n/a	n/a
4	FOXA1	chr8:10532434-10532823	T-47D	breast:	n/a	chr8:10532580-10532595 chr8:10532600-10532615
5	FOXA1	chr8:10532405-10532716	T-47D	breast:	n/a	chr8:10532580-10532595 chr8:10532600-10532615
6	STAT3	chr8:10532929-10533056	MCF10A-Er-Src	breast:	n/a	n/a
7	TAL1	chr8:10531594-10531750	K562	blood:	n/a	n/a

Variant related genes	Relation type
C8orf74	TF binding region

Extended variants
information (count: 149 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572208352	chr8:10530793-10530794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534401200	chr8:10530808-10530809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113247593	chr8:10530828-10530829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577531721	chr8:10530845-10530846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76677929	chr8:10530880-10530881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556394068	chr8:10530885-10530886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372447623	chr8:10530889-10530890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181715410	chr8:10530925-10530926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62492310	chr8:10530933-10530934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376455988	chr8:10530940-10530941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542051285	chr8:10530977-10530978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375199012	chr8:10530995-10530996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146658931	chr8:10531013-10531014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373587520	chr8:10531038-10531039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10216539	chr8:10531087-10531088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533127457	chr8:10531119-10531120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550195511	chr8:10531121-10531122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115501070	chr8:10531156-10531157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529188431	chr8:10531192-10531193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139064828	chr8:10531212-10531213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72494283	chr8:10531296-10531297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534730928	chr8:10531301-10531302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111899250	chr8:10531306-10531307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115786099	chr8:10531308-10531309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534364760	chr8:10531314-10531315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571227817	chr8:10531322-10531323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536696941	chr8:10531373-10531374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550245482	chr8:10531374-10531375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373134138	chr8:10531396-10531397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576353985	chr8:10531436-10531437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542087982	chr8:10531462-10531463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548123522	chr8:10531464-10531465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556715017	chr8:10531472-10531473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555553653	chr8:10531497-10531498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184905082	chr8:10531498-10531499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189698287	chr8:10531512-10531513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564469727	chr8:10531564-10531565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111338039	chr8:10531593-10531594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376328592	chr8:10531630-10531631	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs4840504	chr8:10531677-10531678	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113653471	chr8:10531683-10531684	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs111775813	chr8:10531704-10531705	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs113811587	chr8:10531720-10531721	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373039547	chr8:10531754-10531755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565879800	chr8:10531759-10531760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112336844	chr8:10531781-10531782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112969813	chr8:10531791-10531792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112614482	chr8:10531794-10531795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180940226	chr8:10531857-10531858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142359239	chr8:10531898-10531899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10526800-10537600	Weak transcription	Gastric	stomach
2	chr8:10528600-10531000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:10529000-10531000	Enhancers	HUVEC	blood vessel
4	chr8:10529400-10530800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:10529400-10530800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:10529600-10530800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:10529600-10530800	Enhancers	Lung	lung
8	chr8:10529600-10532800	Weak transcription	K562	blood
9	chr8:10529800-10531000	Enhancers	Hela-S3	cervix
10	chr8:10530000-10530800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:10530000-10532600	Weak transcription	A549	lung
12	chr8:10530200-10530800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:10530600-10532200	Weak transcription	Esophagus	oesophagus
14	chr8:10530600-10532800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:10530600-10536800	Weak transcription	Spleen	Spleen
16	chr8:10530800-10537200	Weak transcription	Lung	lung
17	chr8:10531000-10532200	Weak transcription	Hela-S3	cervix
18	chr8:10531000-10534200	Weak transcription	HUVEC	blood vessel
19	chr8:10532200-10532600	Enhancers	Esophagus	oesophagus
20	chr8:10532200-10533200	Enhancers	Hela-S3	cervix
21	chr8:10532400-10532600	Enhancers	Pancreas	Pancrea
22	chr8:10532400-10532600	Enhancers	Stomach Mucosa	stomach
23	chr8:10532600-10534000	Enhancers	A549	lung
24	chr8:10532600-10534200	Weak transcription	Esophagus	oesophagus
25	chr8:10532800-10533000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:10532800-10534200	Weak transcription	Stomach Mucosa	stomach
27	chr8:10532800-10535800	Enhancers	K562	blood
28	chr8:10533000-10533400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:10533200-10536200	Weak transcription	Hela-S3	cervix
30	chr8:10533200-10538200	Weak transcription	Pancreas	Pancrea

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