Variant report

Variant	esv3365390
Chromosome Location	chr8:69442447-69470709
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	BACH1	chr8:69468596-69469028	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F4	chr8:69455525-69455763	MCF10A-Er-Src	breast:	n/a	chr8:69455527-69455536
3	EP300	chr8:69451305-69451465	K562	blood:	n/a	n/a
4	FOXA1	chr8:69459934-69460222	ECC-1	luminal epithelium:	n/a	n/a
5	FOXA1	chr8:69459941-69460164	ECC-1	luminal epithelium:	n/a	n/a
6	GATA3	chr8:69459823-69460344	MCF-7	breast:	n/a	n/a
7	GATA3	chr8:69462868-69463057	SH-SY5Y	brain:	n/a	n/a
8	KAP1	chr8:69445140-69445419	K562	blood:	n/a	n/a
9	KAP1	chr8:69459867-69460312	HEK293	kidney:	n/a	n/a
10	MAFF	chr8:69468641-69468943	HepG2	liver:	n/a	chr8:69468790-69468808
11	MAFF	chr8:69463354-69463489	HepG2	liver:	n/a	n/a
12	MAFK	chr8:69443274-69443399	HepG2	liver:	n/a	chr8:69443303-69443318
13	MAFK	chr8:69463418-69463448	HepG2	liver:	n/a	n/a
14	MAFK	chr8:69468612-69468924	HepG2	liver:	n/a	chr8:69468792-69468802 chr8:69468793-69468802 chr8:69468791-69468806
15	MAFK	chr8:69463364-69463490	HepG2	liver:	n/a	chr8:69463414-69463429
16	MAFK	chr8:69468618-69468996	H1-hESC	embryonic stem cell:	n/a	chr8:69468792-69468802 chr8:69468793-69468802 chr8:69468791-69468806
17	MAFK	chr8:69443282-69443376	HepG2	liver:	n/a	chr8:69443303-69443318
18	MAFK	chr8:69468617-69468947	HepG2	liver:	n/a	chr8:69468792-69468802 chr8:69468793-69468802 chr8:69468791-69468806
19	MAFK	chr8:69468695-69468919	IMR90	lung:	n/a	chr8:69468792-69468802 chr8:69468793-69468802 chr8:69468791-69468806
20	NR2F2	chr8:69459866-69460354	MCF-7	breast:	n/a	n/a
21	POLR2A	chr8:69459661-69460374	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr8:69448135-69448153	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr8:69451832-69451974	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr8:69450263-69450428	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr8:69453614-69453693	MCF-7	breast:	n/a	n/a
26	POLR2A	chr8:69468109-69468309	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr8:69468808-69468916	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr8:69442753-69442889	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr8:69455869-69455881	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr8:69468825-69468912	A549	lung:	n/a	n/a
31	POLR2A	chr8:69454587-69454602	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:69468822-69468939	MCF-7	breast:	n/a	n/a
33	TAF1	chr8:69459894-69460278	PFSK-1	brain:	n/a	n/a
34	TCF7L2	chr8:69459854-69460387	HEK293	kidney:	n/a	n/a
35	TCF7L2	chr8:69459977-69460276	Hela-S3	cervix:	n/a	n/a
36	ZNF143	chr8:69463154-69463263	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:69441306..69443760-chr8:69445499..69448302,2	MCF-7	breast:
2	chr8:69463749..69466393-chr8:69471185..69473113,2	MCF-7	breast:
3	chr8:69441306..69443760-chr8:69445499..69448302,2	MCF-7	breast:
4	chr8:69455782..69457817-chr8:69462101..69463881,2	K562	blood:
5	chr8:69455782..69457817-chr8:69462101..69463881,2	K562	blood:
6	chr8:69440806..69442992-chr8:69446765..69449048,2	K562	blood:
7	chr8:69440806..69442992-chr8:69446765..69449048,2	K562	blood:

Variant related genes	Relation type
C8orf34	TF binding region
RPS15AP25	TF binding region

Extended variants
information (count: 328 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:328 , 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	rs187145554	chr8:69442477-69442478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368263371	chr8:69442525-69442526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557101105	chr8:69442527-69442528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377337945	chr8:69442532-69442533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144939841	chr8:69442554-69442555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4559226	chr8:69442583-69442584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs4455810	chr8:69442613-69442614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs191020329	chr8:69442630-69442631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4559227	chr8:69442652-69442653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs56048834	chr8:69442819-69442820	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs530991269	chr8:69442867-69442868	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs539874274	chr8:69442924-69442925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182127092	chr8:69442945-69442946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575332476	chr8:69442950-69442951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569820928	chr8:69443033-69443034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138825091	chr8:69443111-69443112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552179384	chr8:69443140-69443141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186724746	chr8:69443162-69443163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534302904	chr8:69443187-69443188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142006343	chr8:69443219-69443220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567832042	chr8:69443265-69443266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557839463	chr8:69443293-69443294	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536710971	chr8:69443323-69443324	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs2380475	chr8:69443329-69443330	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577355306	chr8:69443340-69443341	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371590843	chr8:69443361-69443362	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs11992254	chr8:69443370-69443371	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553367412	chr8:69443375-69443376	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs191534931	chr8:69443413-69443414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7009978	chr8:69443476-69443477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183046484	chr8:69443516-69443517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188480836	chr8:69443520-69443521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575811592	chr8:69443542-69443543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7009743	chr8:69443554-69443555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79611902	chr8:69443566-69443567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143697951	chr8:69443608-69443609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575720554	chr8:69443612-69443613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148126024	chr8:69443618-69443619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112083265	chr8:69443624-69443625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559411023	chr8:69443640-69443641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541804425	chr8:69443664-69443665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113929703	chr8:69443695-69443696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150669199	chr8:69443696-69443697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192896705	chr8:69443749-69443750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550243590	chr8:69443831-69443832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571050430	chr8:69443839-69443840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539665527	chr8:69443845-69443846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7010609	chr8:69443857-69443858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116422430	chr8:69443894-69443895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536107139	chr8:69443917-69443918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69423800-69445600	Weak transcription	Aorta	Aorta
2	chr8:69445400-69447800	Weak transcription	Adipose Nuclei	Adipose
3	chr8:69446600-69447000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:69460000-69460400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:69467200-69467800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:69467200-69467800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:69467400-69467600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:69467400-69467800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:69467400-69468400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:69467800-69468800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:69467800-69468800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:69467800-69477400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:69468400-69478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:69468600-69469000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:69468600-69469000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:69468800-69469000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:69468800-69469000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:69468800-69469600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:69469600-69477400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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