Variant report

Variant	esv3512140
Chromosome Location	chr5:70412546-70499044
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	BATF	chr5:70473270-70473572	GM12878	blood:	n/a	n/a
2	BATF	chr5:70456649-70456978	GM12878	blood:	n/a	n/a
3	BATF	chr5:70456678-70456913	GM12878	blood:	n/a	n/a
4	BATF	chr5:70473436-70473649	GM12878	blood:	n/a	n/a
5	BCL11A	chr5:70498899-70499099	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:70467406-70467579	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:70466178-70466577	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:70466234-70466446	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:70497555-70497741	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:70491903-70492088	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:70456762-70456944	GM12878	blood:	n/a	n/a
12	BCL11A	chr5:70456746-70456985	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:70493340-70493531	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:70476360-70476599	HepG2	liver:	n/a	n/a
15	BHLHE40	chr5:70435263-70435547	HepG2	liver:	n/a	n/a
16	BHLHE40	chr5:70473739-70473978	HepG2	liver:	n/a	n/a
17	BHLHE40	chr5:70467222-70467633	HepG2	liver:	n/a	n/a
18	BHLHE40	chr5:70495349-70495582	HepG2	liver:	n/a	n/a
19	CTCF	chr5:70424038-70424417	A549	lung:	n/a	n/a
20	CTCF	chr5:70475612-70475692	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr5:70424058-70424359	K562	blood:	n/a	n/a
22	CTCF	chr5:70424032-70424373	K562	blood:	n/a	n/a
23	CTCF	chr5:70424036-70424400	K562	blood:	n/a	n/a
24	CTCF	chr5:70428707-70429042	A549	lung:	n/a	n/a
25	CTCF	chr5:70464449-70464557	GM10248	blood:	n/a	n/a
26	CTCF	chr5:70424084-70424268	A549	lung:	n/a	n/a
27	CTCF	chr5:70446874-70446893	Spleen_OC	spleen:	n/a	n/a
28	EBF1	chr5:70456755-70457006	GM12878	blood:	n/a	n/a
29	EBF1	chr5:70465741-70466078	GM12878	blood:	n/a	n/a
30	EBF1	chr5:70469655-70469864	GM12878	blood:	n/a	n/a
31	EBF1	chr5:70456659-70457062	GM12878	blood:	n/a	n/a
32	EBF1	chr5:70491505-70491704	GM12878	blood:	n/a	n/a
33	EBF1	chr5:70467612-70467799	GM12878	blood:	n/a	n/a
34	EBF1	chr5:70478233-70478433	GM12878	blood:	n/a	n/a
35	EP300	chr5:70456615-70456954	GM12878	blood:	n/a	n/a
36	EP300	chr5:70491889-70492342	GM12878	blood:	n/a	chr5:70492297-70492311
37	EP300	chr5:70467364-70467595	GM12878	blood:	n/a	n/a
38	EP300	chr5:70491088-70491275	GM12878	blood:	n/a	n/a
39	EP300	chr5:70424048-70424247	GM12878	blood:	n/a	n/a
40	EP300	chr5:70467180-70467642	GM12878	blood:	n/a	n/a
41	EP300	chr5:70484632-70485067	GM12878	blood:	n/a	n/a
42	EP300	chr5:70494841-70495113	GM12878	blood:	n/a	n/a
43	EP300	chr5:70498788-70499115	GM12878	blood:	n/a	n/a
44	FOS	chr5:70432697-70432899	MCF10A-Er-Src	breast:	n/a	chr5:70432717-70432726 chr5:70432718-70432727
45	FOS	chr5:70432703-70432896	MCF10A-Er-Src	breast:	n/a	chr5:70432717-70432726 chr5:70432718-70432727
46	FOS	chr5:70432703-70432755	MCF10A-Er-Src	breast:	n/a	chr5:70432717-70432726 chr5:70432718-70432727
47	FOSL2	chr5:70451846-70452180	HepG2	liver:	n/a	n/a
48	FOSL2	chr5:70498796-70499035	HepG2	liver:	n/a	n/a
49	FOSL2	chr5:70422152-70422621	HepG2	liver:	n/a	chr5:70422413-70422421
50	FOSL2	chr5:70466001-70466539	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H2-7	chr5:70493473-70493614	NONHSAT102003
2	lnc-GTF2H2-7	chr5:70435716-70435861	NONHSAT102003
3	lnc-GTF2H2-7	chr5:70438472-70438586	NONHSAT102003
4	lnc-GTF2H2-7	chr5:70493473-70493608	NONHSAT102005
5	lnc-GTF2H2-7	chr5:70492974-70493188	NONHSAT102005
6	lnc-SMN1-3	chr5:70485544-70485865	NONHSAT102004

Variant related genes	Relation type
CDH12P4	TF binding region
ENSG00000251634	TF binding region
GUSBP9	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79305553	chr5:70428924-70428925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200150407	chr5:70429454-70429455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537453781	chr5:70435729-70435730	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs549451503	chr5:70435732-70435733	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs569605214	chr5:70435741-70435742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs567758703	chr5:70435753-70435754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs149616649	chr5:70435775-70435776	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs534845998	chr5:70435795-70435796	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs188327064	chr5:70484899-70484900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527899577	chr5:70485567-70485568	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs367964972	chr5:70485579-70485580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs200152342	chr5:70485580-70485581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs569607131	chr5:70492643-70492644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536982030	chr5:70492645-70492646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201652724	chr5:70492710-70492711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574511307	chr5:70493287-70493288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554249896	chr5:70493302-70493303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572499428	chr5:70493311-70493312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546373582	chr5:70493324-70493325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564709499	chr5:70493352-70493353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532023301	chr5:70493494-70493495	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs62372705	chr5:70493507-70493508	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs561634349	chr5:70493586-70493587	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs528892886	chr5:70493592-70493593	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs547133312	chr5:70493622-70493623	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs565767699	chr5:70493626-70493627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs532927191	chr5:70493646-70493647	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs71247233	chr5:70494819-70494820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs62372706	chr5:70495118-70495119	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200257143	chr5:70497244-70497245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs200920672	chr5:70497267-70497268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201896045	chr5:70497611-70497612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs574210324	chr5:70497752-70497753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs541256329	chr5:70497763-70497764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551147651	chr5:70497768-70497769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs62372707	chr5:70497784-70497785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569541154	chr5:70497797-70497798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs370078861	chr5:70497925-70497926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200722857	chr5:70498061-70498062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201933443	chr5:70498074-70498075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs76097976	chr5:70498086-70498087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
Spinal muscular atrophy	21762474	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
Breast cancer	21785460	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
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	22549408	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70484800-70485000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:70492000-70494200	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:70492000-70494200	Weak transcription	Fetal Thymus	thymus
4	chr5:70492200-70494600	Weak transcription	Dnd41	blood
5	chr5:70492400-70494800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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