Variant report

Variant	esv1841815
Chromosome Location	chr5:68830068-68850595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:68834723-68834923	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:68834691-68834785	HepG2	liver:	n/a	n/a
3	CTCF	chr5:68838439-68838481	GM20000	blood:	n/a	n/a
4	CTCF	chr5:68833712-68833842	LNCaP	prostate:	n/a	n/a
5	CTCF	chr5:68838421-68838427	GM20000	blood:	n/a	n/a
6	CTCF	chr5:68833676-68833858	LNCaP	prostate:	n/a	n/a
7	CTCF	chr5:68833712-68833856	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr5:68833702-68833774	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr5:68833553-68833648	GM10266	blood:	n/a	n/a
10	FOSL2	chr5:68834556-68834951	HepG2	liver:	n/a	n/a
11	FOXA1	chr5:68842830-68843191	HepG2	liver:	n/a	chr5:68842988-68843000
12	FOXA1	chr5:68840155-68840694	HepG2	liver:	n/a	n/a
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	chr5:68840594-68840707	MCF-7	breast:	n/a	n/a
18	MYC	chr5:68833284-68833360	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:68835482-68835531	MCF-7	breast:	n/a	n/a
20	POLR2A	chr5:68835315-68835333	MCF-7	breast:	n/a	n/a
21	POLR2A	chr5:68834348-68834409	MCF-7	breast:	n/a	n/a
22	POLR2A	chr5:68840874-68840902	MCF-7	breast:	n/a	n/a
23	POLR2A	chr5:68840766-68840832	A549	lung:	n/a	n/a
24	POLR2A	chr5:68840747-68840759	A549	lung:	n/a	n/a
25	POLR2A	chr5:68833047-68833147	MCF-7	breast:	n/a	n/a
26	POLR2A	chr5:68844558-68844760	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:68833123-68833425	ProgFib	skin:	n/a	n/a
28	POLR2A	chr5:68838476-68838489	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:68835561-68835579	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr5:68838423-68838427	MCF-7	breast:	n/a	n/a
31	POLR2A	chr5:68840837-68840852	A549	lung:	n/a	n/a
32	POLR2A	chr5:68831760-68831860	MCF-7	breast:	n/a	n/a
33	POLR2A	chr5:68847934-68847986	A549	lung:	n/a	n/a
34	POLR2A	chr5:68844581-68844753	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:68835285-68835304	MCF-7	breast:	n/a	n/a
36	POLR2A	chr5:68835590-68835691	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr5:68847935-68848017	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:68840912-68840954	MCF-7	breast:	n/a	n/a
39	POLR2A	chr5:68834606-68834796	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:68847053-68847135	Gliobla	brain:	n/a	n/a
41	RXRA	chr5:68834571-68834922	HepG2	liver:	n/a	n/a
42	SP1	chr5:68842931-68843164	HepG2	liver:	n/a	n/a
43	SP1	chr5:68834522-68834969	HepG2	liver:	n/a	n/a
44	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
RNU6-724P	TF binding region

Extended variants
information (count: 193 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369518478	chr5:68830551-68830552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372766137	chr5:68830632-68830633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201673353	chr5:68830633-68830634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377673456	chr5:68830663-68830664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369504788	chr5:68830680-68830681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574905779	chr5:68830755-68830756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535574969	chr5:68830850-68830851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549231346	chr5:68830864-68830865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553790292	chr5:68830961-68830962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572110124	chr5:68831076-68831077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527579464	chr5:68831402-68831403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545764277	chr5:68831547-68831548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150997070	chr5:68831653-68831654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369902959	chr5:68831674-68831675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184083540	chr5:68831679-68831680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544421937	chr5:68831694-68831695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562536582	chr5:68831701-68831702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529835315	chr5:68831717-68831718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570585994	chr5:68831752-68831753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373788498	chr5:68831756-68831757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548318154	chr5:68831782-68831783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28880118	chr5:68831868-68831869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531321974	chr5:68831931-68831932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527307868	chr5:68831932-68831933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367731123	chr5:68831942-68831943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376366440	chr5:68831943-68831944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199733932	chr5:68831971-68831972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552170584	chr5:68831988-68831989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571197706	chr5:68832236-68832237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201692260	chr5:68832266-68832267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531891074	chr5:68832362-68832363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550396579	chr5:68832378-68832379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568552674	chr5:68832433-68832434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535998333	chr5:68832449-68832450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370457545	chr5:68832457-68832458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549817851	chr5:68832475-68832476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553869974	chr5:68832497-68832498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565801004	chr5:68832517-68832518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539481174	chr5:68832518-68832519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557706451	chr5:68832617-68832618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577113039	chr5:68832625-68832626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544167204	chr5:68832640-68832641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7381161	chr5:68832646-68832647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181335305	chr5:68832650-68832651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574551664	chr5:68832663-68832664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542019600	chr5:68832749-68832750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373134497	chr5:68833279-68833280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560307108	chr5:68833605-68833606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568971079	chr5:68833606-68833607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531363581	chr5:68833607-68833608	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68815800-68831000	Weak transcription	HepG2	liver
2	chr5:68821800-68830800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:68824000-68830600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:68824000-68855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:68824400-68832400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:68826600-68830600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:68827200-68831000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:68827600-68830200	Weak transcription	GM12878-XiMat	blood
9	chr5:68827600-68830800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:68827800-68830200	Weak transcription	Brain Anterior Caudate	brain
11	chr5:68828200-68830800	Weak transcription	Gastric	stomach
12	chr5:68828200-68840800	Weak transcription	Pancreas	Pancrea
13	chr5:68829600-68831200	Weak transcription	Liver	Liver
14	chr5:68829600-68855400	Weak transcription	Fetal Intestine Small	intestine
15	chr5:68829800-68832000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:68840800-68841000	Enhancers	Pancreas	Pancrea
17	chr5:68840800-68841000	Enhancers	HepG2	liver
18	chr5:68841000-68841200	Weak transcription	Pancreas	Pancrea
19	chr5:68841000-68855200	Weak transcription	HepG2	liver
20	chr5:68844400-68855400	Weak transcription	Fetal Intestine Large	intestine
21	chr5:68845800-68855600	Weak transcription	H9 Cell Line	embryonic stem cell

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