Variant report

Variant	esv1825777
Chromosome Location	chr5:68832957-68849594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:68834691-68834785	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:68834723-68834923	HepG2	liver:	n/a	n/a
3	CTCF	chr5:68833712-68833856	Pancreas_OC	pancreas:	n/a	n/a
4	CTCF	chr5:68838421-68838427	GM20000	blood:	n/a	n/a
5	CTCF	chr5:68838439-68838481	GM20000	blood:	n/a	n/a
6	CTCF	chr5:68833712-68833842	LNCaP	prostate:	n/a	n/a
7	CTCF	chr5:68833702-68833774	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr5:68833553-68833648	GM10266	blood:	n/a	n/a
9	CTCF	chr5:68833676-68833858	LNCaP	prostate:	n/a	n/a
10	FOSL2	chr5:68834556-68834951	HepG2	liver:	n/a	n/a
11	FOXA1	chr5:68840155-68840694	HepG2	liver:	n/a	n/a
12	FOXA1	chr5:68842830-68843191	HepG2	liver:	n/a	chr5:68842988-68843000
13	FOXA1	chr5:68834450-68834935	HepG2	liver:	n/a	n/a
14	JUND	chr5:68834705-68834820	HepG2	liver:	n/a	n/a
15	JUND	chr5:68834583-68834856	HepG2	liver:	n/a	n/a
16	MYBL2	chr5:68834548-68834980	HepG2	liver:	n/a	n/a
17	MYC	chr5:68833284-68833360	MCF-7	breast:	n/a	n/a
18	MYC	chr5:68840594-68840707	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:68840837-68840852	A549	lung:	n/a	n/a
20	POLR2A	chr5:68833123-68833425	ProgFib	skin:	n/a	n/a
21	POLR2A	chr5:68834606-68834796	HepG2	liver:	n/a	n/a
22	POLR2A	chr5:68840766-68840832	A549	lung:	n/a	n/a
23	POLR2A	chr5:68840912-68840954	MCF-7	breast:	n/a	n/a
24	POLR2A	chr5:68835590-68835691	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr5:68844581-68844753	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr5:68840874-68840902	MCF-7	breast:	n/a	n/a
27	POLR2A	chr5:68838423-68838427	MCF-7	breast:	n/a	n/a
28	POLR2A	chr5:68840747-68840759	A549	lung:	n/a	n/a
29	POLR2A	chr5:68835315-68835333	MCF-7	breast:	n/a	n/a
30	POLR2A	chr5:68847935-68848017	MCF-7	breast:	n/a	n/a
31	POLR2A	chr5:68838476-68838489	MCF-7	breast:	n/a	n/a
32	POLR2A	chr5:68834348-68834409	MCF-7	breast:	n/a	n/a
33	POLR2A	chr5:68835561-68835579	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr5:68847934-68847986	A549	lung:	n/a	n/a
35	POLR2A	chr5:68847053-68847135	Gliobla	brain:	n/a	n/a
36	POLR2A	chr5:68835482-68835531	MCF-7	breast:	n/a	n/a
37	POLR2A	chr5:68833047-68833147	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:68835285-68835304	MCF-7	breast:	n/a	n/a
39	POLR2A	chr5:68844558-68844760	H1-hESC	embryonic stem cell:	n/a	n/a
40	RXRA	chr5:68834571-68834922	HepG2	liver:	n/a	n/a
41	SP1	chr5:68834522-68834969	HepG2	liver:	n/a	n/a
42	SP1	chr5:68842931-68843164	HepG2	liver:	n/a	n/a
43	TCF12	chr5:68834620-68834821	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000238740	TF binding region
OCLN	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373134497	chr5:68833279-68833280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560307108	chr5:68833605-68833606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568971079	chr5:68833606-68833607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531363581	chr5:68833607-68833608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200271483	chr5:68833837-68833838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185979339	chr5:68833909-68833910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377593765	chr5:68833951-68833952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370624234	chr5:68834017-68834018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545843806	chr5:68834155-68834156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563923583	chr5:68834208-68834209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532072791	chr5:68834219-68834220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550216840	chr5:68834310-68834311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551063957	chr5:68834670-68834671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568038210	chr5:68834714-68834715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75758747	chr5:68835256-68835257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111906095	chr5:68835478-68835479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111963051	chr5:68836458-68836459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2666583	chr5:68838938-68838939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62371755	chr5:68839366-68839367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568708094	chr5:68840639-68840640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374647565	chr5:68840793-68840794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377718385	chr5:68840825-68840826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529478147	chr5:68840860-68840861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547569464	chr5:68840877-68840878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370970569	chr5:68840886-68840887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144743806	chr5:68840898-68840899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539541122	chr5:68840909-68840910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557769604	chr5:68840949-68840950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374290737	chr5:68840951-68840952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569957677	chr5:68840963-68840964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537407554	chr5:68840977-68840978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556208975	chr5:68840996-68840997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574644845	chr5:68841050-68841051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542082960	chr5:68841091-68841092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553989126	chr5:68841159-68841160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200539187	chr5:68841258-68841259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2666581	chr5:68841325-68841326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2561167	chr5:68841353-68841354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112435330	chr5:68841374-68841375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572218624	chr5:68842313-68842314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545907196	chr5:68842314-68842315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571000746	chr5:68842315-68842316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564168490	chr5:68842354-68842355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531228553	chr5:68842723-68842724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543369961	chr5:68842788-68842789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562278457	chr5:68842789-68842790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529521280	chr5:68842797-68842798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374288539	chr5:68842814-68842815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368868008	chr5:68842829-68842830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190800304	chr5:68842970-68842971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68824000-68855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:68828200-68840800	Weak transcription	Pancreas	Pancrea
3	chr5:68829600-68855400	Weak transcription	Fetal Intestine Small	intestine
4	chr5:68840800-68841000	Enhancers	Pancreas	Pancrea
5	chr5:68840800-68841000	Enhancers	HepG2	liver
6	chr5:68841000-68841200	Weak transcription	Pancreas	Pancrea
7	chr5:68841000-68855200	Weak transcription	HepG2	liver
8	chr5:68844400-68855400	Weak transcription	Fetal Intestine Large	intestine
9	chr5:68845800-68855600	Weak transcription	H9 Cell Line	embryonic stem cell

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