Variant report

Variant	esv3367208
Chromosome Location	chr5:79652593-79659443
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	chr5:79657176-79657470	K562	blood:	n/a	chr5:79657329-79657340
2	CEBPB	chr5:79657359-79657376	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr5:79657207-79657449	K562	blood:	n/a	chr5:79657329-79657340
4	CEBPB	chr5:79657207-79657490	HepG2	liver:	n/a	chr5:79657329-79657340
5	E2F4	chr5:79653327-79653538	MCF10A-Er-Src	breast:	n/a	n/a
6	HEY1	chr5:79655790-79655980	HepG2	liver:	n/a	n/a
7	HEY1	chr5:79655715-79656029	K562	blood:	n/a	n/a
8	HEY1	chr5:79655737-79655941	HepG2	liver:	n/a	n/a
9	HEY1	chr5:79655726-79655923	K562	blood:	n/a	n/a
10	MYC	chr5:79652965-79653109	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr5:79655751-79655783	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:79655694-79655928	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr5:79655708-79655950	GM12891	blood:	n/a	n/a
14	POLR2A	chr5:79655804-79655900	A549	lung:	n/a	n/a
15	POLR2A	chr5:79655695-79655947	GM12891	blood:	n/a	n/a
16	POLR2A	chr5:79655771-79655897	A549	lung:	n/a	n/a
17	POLR2A	chr5:79659134-79659172	A549	lung:	n/a	n/a
18	POLR2A	chr5:79655757-79655907	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr5:79655715-79655930	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:79655666-79656125	GM12892	blood:	n/a	n/a
21	POLR2A	chr5:79655817-79655888	A549	lung:	n/a	n/a
22	POLR2A	chr5:79655720-79655962	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:79655751-79655901	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:79655740-79656026	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:79655812-79655885	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:79655719-79656030	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:79655784-79655913	A549	lung:	n/a	n/a
28	POLR2A	chr5:79655769-79655927	GM12891	blood:	n/a	n/a
29	POLR2A	chr5:79655775-79655927	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr5:79655786-79655911	GM12891	blood:	n/a	n/a
31	TAF1	chr5:79655754-79655954	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr5:79655769-79655925	Hela-S3	cervix:	n/a	n/a
33	TAF1	chr5:79655733-79655931	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr5:79655772-79655909	GM12892	blood:	n/a	n/a
35	TAF1	chr5:79655747-79655910	Hela-S3	cervix:	n/a	n/a
36	TAF1	chr5:79655721-79655931	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000248569	TF binding region
HNRNPA1P12	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190701263	chr5:79655863-79655864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565704484	chr5:79655879-79655880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534928579	chr5:79655897-79655898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557723123	chr5:79655898-79655899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs377395565	chr5:79655901-79655902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs370591618	chr5:79655915-79655916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577515366	chr5:79655916-79655917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs142938217	chr5:79655974-79655975	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs36048312	chr5:79655990-79655991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs377032682	chr5:79656012-79656013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs151085988	chr5:79656031-79656032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs183272806	chr5:79656069-79656070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542279224	chr5:79656087-79656088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562315582	chr5:79656091-79656092	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572499286	chr5:79656092-79656093	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs368364303	chr5:79656109-79656110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs564667502	chr5:79656116-79656117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200727897	chr5:79657187-79657188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs192082338	chr5:79657265-79657266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs183777834	chr5:79657306-79657307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs567218343	chr5:79657323-79657324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs6876442	chr5:79657329-79657330	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534817422	chr5:79657330-79657331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187921716	chr5:79657391-79657392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs6896247	chr5:79657393-79657394	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143151826	chr5:79657413-79657414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs576194979	chr5:79657435-79657436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs192944531	chr5:79657457-79657458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs72763530	chr5:79657476-79657477	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575350057	chr5:79659135-79659136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs546323076	chr5:79659139-79659140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79650200-79652600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:79650400-79652600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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