Variant report

Variant	esv3351205
Chromosome Location	chr8:8490592-8492740
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	chr8:8492657-8494042	A549	lung:	n/a	chr8:8493729-8493737 chr8:8493625-8493634 chr8:8493625-8493634 chr8:8493625-8493634 chr8:8493624-8493635 chr8:8493623-8493636 chr8:8493623-8493636
2	CEBPB	chr8:8492687-8494023	Hela-S3	cervix:	n/a	chr8:8493729-8493737 chr8:8493625-8493634 chr8:8493625-8493634 chr8:8493625-8493634 chr8:8493624-8493635 chr8:8493623-8493636 chr8:8493623-8493636
3	EBF1	chr8:8492136-8492280	GM12878	blood:	n/a	n/a
4	EP300	chr8:8492707-8493194	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr8:8492616-8493288	SK-N-SH	brain:	n/a	n/a
6	EP300	chr8:8492553-8493322	A549	lung:	n/a	n/a
7	EP300	chr8:8492606-8493239	A549	lung:	n/a	n/a
8	FOS	chr8:8492708-8493191	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr8:8492725-8493186	HUVEC	blood vessel:	n/a	n/a
10	FOSL1	chr8:8492697-8493264	HCT-116	colon:	n/a	n/a
11	FOSL2	chr8:8492556-8493246	A549	lung:	n/a	n/a
12	FOSL2	chr8:8490098-8490670	A549	lung:	n/a	n/a
13	FOSL2	chr8:8492717-8493272	SK-N-SH	brain:	n/a	n/a
14	FOXA1	chr8:8492702-8493227	A549	lung:	n/a	chr8:8493110-8493122
15	FOXA2	chr8:8490045-8490695	A549	lung:	n/a	chr8:8490522-8490534
16	GATA3	chr8:8492638-8493252	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr8:8489955-8490778	A549	lung:	n/a	n/a
18	GATA3	chr8:8492507-8493805	A549	lung:	n/a	n/a
19	GATA3	chr8:8492576-8493350	SK-N-SH	brain:	n/a	n/a
20	JUND	chr8:8492675-8493292	SK-N-SH	brain:	n/a	n/a
21	JUND	chr8:8492642-8493283	SK-N-SH	brain:	n/a	n/a
22	MAX	chr8:8492165-8492309	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr8:8492723-8493133	MCF10A-Er-Src	breast:	n/a	n/a
24	NFIC	chr8:8491890-8492463	GM12878	blood:	n/a	n/a
25	NR3C1	chr8:8492721-8493186	A549	lung:	n/a	n/a
26	PBX3	chr8:8492570-8493197	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr8:8491072-8491218	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:8490878-8491371	GM12891	blood:	n/a	n/a
29	POLR2A	chr8:8491263-8491277	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:8491250-8491258	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:8492733-8493272	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr8:8490914-8491394	GM12891	blood:	n/a	n/a
33	POLR2A	chr8:8491228-8491234	GM12878	blood:	n/a	n/a
34	RCOR1	chr8:8492626-8493163	Hela-S3	cervix:	n/a	n/a
35	REST	chr8:8492598-8493098	A549	lung:	n/a	n/a
36	RFX5	chr8:8492587-8493192	Hela-S3	cervix:	n/a	n/a
37	RUNX3	chr8:8491942-8492450	GM12878	blood:	n/a	n/a
38	SP1	chr8:8492612-8493259	A549	lung:	n/a	n/a
39	SP1	chr8:8492656-8493309	A549	lung:	n/a	n/a
40	STAT3	chr8:8492721-8493820	MCF10A-Er-Src	breast:	n/a	chr8:8493454-8493461 chr8:8493213-8493220 chr8:8492910-8492917
41	TCF12	chr8:8492498-8493791	A549	lung:	n/a	n/a
42	TCF12	chr8:8492545-8493307	SK-N-SH	brain:	n/a	n/a
43	TEAD4	chr8:8492627-8493207	A549	lung:	n/a	n/a
44	TEAD4	chr8:8492728-8493064	A549	lung:	n/a	n/a
45	TEAD4	chr8:8492708-8493150	ECC-1	luminal epithelium:	n/a	n/a
46	YY1	chr8:8492115-8492306	GM12878	blood:	n/a	n/a
47	YY1	chr8:8492074-8492409	GM12891	blood:	n/a	n/a
48	YY1	chr8:8492123-8492435	GM12878	blood:	n/a	n/a
49	YY1	chr8:8492121-8492345	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000264445	TF binding region

Extended variants
information (count: 126 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541270796	chr8:8490622-8490623	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs183387919	chr8:8490653-8490654	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs561151120	chr8:8490666-8490667	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs187924233	chr8:8490667-8490668	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs543910541	chr8:8490723-8490724	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538472898	chr8:8490750-8490751	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs143766493	chr8:8490761-8490762	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs529319085	chr8:8490809-8490810	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs148963202	chr8:8490854-8490855	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561838121	chr8:8490860-8490861	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34493016	chr8:8490941-8490942	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs527578907	chr8:8490961-8490962	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs35527491	chr8:8490976-8490977	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547315352	chr8:8490998-8490999	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570298758	chr8:8491001-8491002	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532893601	chr8:8491055-8491056	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs57682076	chr8:8491075-8491076	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549487433	chr8:8491094-8491095	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569378575	chr8:8491106-8491107	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535092687	chr8:8491201-8491202	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs193199304	chr8:8491231-8491232	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs566292397	chr8:8491235-8491236	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535319161	chr8:8491242-8491243	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184336659	chr8:8491244-8491245	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs4841002	chr8:8491265-8491266	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531387022	chr8:8491275-8491276	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557497806	chr8:8491284-8491285	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs6988098	chr8:8491334-8491335	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542701914	chr8:8491340-8491341	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142864128	chr8:8491347-8491348	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs78618502	chr8:8491354-8491355	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541298075	chr8:8491355-8491356	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs73506234	chr8:8491360-8491361	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs151047498	chr8:8491375-8491376	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs549524469	chr8:8491380-8491381	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4841003	chr8:8491382-8491383	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs28601737	chr8:8491384-8491385	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs60977294	chr8:8491394-8491395	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561658210	chr8:8491396-8491397	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548746775	chr8:8491402-8491403	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs35144091	chr8:8491405-8491406	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140934378	chr8:8491407-8491408	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs201554647	chr8:8491410-8491411	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs202102770	chr8:8491412-8491413	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534292829	chr8:8491424-8491425	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs6999073	chr8:8491456-8491457	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs571926447	chr8:8491472-8491473	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs537643328	chr8:8491478-8491479	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554645740	chr8:8491484-8491485	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs13274548	chr8:8491522-8491523	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
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
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
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
Colorectal cancer	16774939	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
Bladder cancer	21909424	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
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8476200-8492600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:8476400-8497200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:8484600-8492200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:8484600-8494200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:8484800-8493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:8485200-8492600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:8485400-8496200	Weak transcription	Fetal Kidney	kidney
8	chr8:8485600-8492000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:8485600-8492000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:8485800-8492400	Weak transcription	Osteobl	bone
11	chr8:8485800-8496200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:8488600-8491400	Enhancers	A549	lung
13	chr8:8488800-8498800	Weak transcription	Pancreas	Pancrea
14	chr8:8489200-8513000	Weak transcription	Gastric	stomach
15	chr8:8489400-8491200	Enhancers	HUVEC	blood vessel
16	chr8:8489400-8491400	Enhancers	Fetal Lung	lung
17	chr8:8489600-8490800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:8489800-8491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:8489800-8491800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:8489800-8491800	Weak transcription	HMEC	breast
21	chr8:8489800-8492000	Active TSS	GM12878-XiMat	blood
22	chr8:8489800-8492000	Weak transcription	Hela-S3	cervix
23	chr8:8489800-8492000	Weak transcription	NHEK	skin
24	chr8:8489800-8492200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:8489800-8492200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:8489800-8492200	Weak transcription	NH-A	brain
27	chr8:8489800-8492400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:8490000-8492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:8490800-8492200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:8491000-8491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:8491000-8491200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:8491000-8491400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:8491000-8495200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:8491200-8492000	Weak transcription	HUVEC	blood vessel
35	chr8:8491200-8492200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:8491200-8492600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:8491400-8491800	Weak transcription	A549	lung
38	chr8:8491400-8494400	Weak transcription	Fetal Lung	lung
39	chr8:8491800-8492400	Enhancers	A549	lung
40	chr8:8491800-8493600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:8491800-8494400	Enhancers	HMEC	breast
42	chr8:8492000-8492600	Enhancers	NHEK	skin
43	chr8:8492000-8492800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:8492000-8492800	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:8492000-8492800	Enhancers	HSMM	muscle
46	chr8:8492000-8494400	Enhancers	Hela-S3	cervix
47	chr8:8492000-8494600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:8492000-8495000	Enhancers	HUVEC	blood vessel
49	chr8:8492000-8495200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:8492200-8492400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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