Variant report

Variant	nsv598940
Chromosome Location	chr5:92024632-92069408
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	ARID3A	chr5:92031123-92031376	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:92031190-92031381	HepG2	liver:	n/a	n/a
3	CEBPB	chr5:92044962-92044968	IMR90	lung:	n/a	n/a
4	CEBPB	chr5:92061157-92061301	A549	lung:	n/a	n/a
5	CTCF	chr5:92040982-92041065	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr5:92067002-92067104	GM20000	blood:	n/a	n/a
7	CTCF	chr5:92048980-92049130	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr5:92058385-92058391	HepG2	liver:	n/a	n/a
9	E2F4	chr5:92026073-92026264	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr5:92052132-92052251	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr5:92053571-92053847	SK-N-SH_RA	brain:	n/a	n/a
12	FAM48A	chr5:92031465-92031517	GM12878	blood:	n/a	n/a
13	FOXA1	chr5:92065593-92065861	T-47D	breast:	n/a	n/a
14	FOXA1	chr5:92065679-92065877	T-47D	breast:	n/a	n/a
15	GATA3	chr5:92068449-92068545	SH-SY5Y	brain:	n/a	chr5:92068456-92068467
16	GATA3	chr5:92032854-92033222	SK-N-SH	brain:	n/a	chr5:92033091-92033112 chr5:92033094-92033110 chr5:92033095-92033105
17	GATA3	chr5:92033395-92033871	SH-SY5Y	brain:	n/a	chr5:92033630-92033640
18	HNF4A	chr5:92031174-92031358	HepG2	liver:	n/a	n/a
19	IRF1	chr5:92029756-92029767	K562	blood:	n/a	n/a
20	MAFF	chr5:92027036-92027073	HepG2	liver:	n/a	n/a
21	MAFK	chr5:92026963-92027070	HepG2	liver:	n/a	chr5:92027021-92027035
22	MAFK	chr5:92027053-92027107	HepG2	liver:	n/a	n/a
23	MAFK	chr5:92041005-92041140	HepG2	liver:	n/a	n/a
24	MAFK	chr5:92054074-92054277	HepG2	liver:	n/a	n/a
25	MAX	chr5:92027924-92028059	NB4	blood:	n/a	chr5:92027989-92027999
26	MYC	chr5:92035128-92035140	MCF10A-Er-Src	breast:	n/a	n/a
27	MYC	chr5:92049254-92049320	GM12878	blood:	n/a	n/a
28	NFYA	chr5:92036162-92036329	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr5:92043113-92043226	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:92026588-92026819	Gliobla	brain:	n/a	n/a
31	POLR2A	chr5:92042669-92042715	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr5:92068915-92069081	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:92037211-92037268	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr5:92064949-92065068	MCF-7	breast:	n/a	n/a
35	POLR2A	chr5:92040268-92040761	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr5:92047403-92047482	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr5:92032693-92032746	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr5:92037014-92037171	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr5:92027013-92027213	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr5:92025014-92025214	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr5:92053652-92053840	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr5:92047531-92047610	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr5:92042469-92042644	MCF10A-Er-Src	breast:	n/a	chr5:92042605-92042612
44	TCF7L2	chr5:92031362-92031793	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:92047627..92050284-chr5:92057636..92060353,2	MCF-7	breast:
2	chr5:92047627..92050284-chr5:92057636..92060353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249984	TF binding region
ENSG00000221810	TF binding region

Extended variants
information (count: 742 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7735987	chr5:92024632-92024633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554869523	chr5:92024652-92024653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199936530	chr5:92024705-92024706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113097918	chr5:92024715-92024716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573916375	chr5:92024795-92024796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34206201	chr5:92024800-92024801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536254714	chr5:92024811-92024812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138491448	chr5:92024851-92024852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576176671	chr5:92024858-92024859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545187599	chr5:92024883-92024884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114114515	chr5:92024908-92024909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368418571	chr5:92024994-92024995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191654511	chr5:92024995-92024996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74806661	chr5:92025017-92025018	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561643830	chr5:92025029-92025030	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs115376101	chr5:92025066-92025067	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs76073350	chr5:92025086-92025087	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs79670471	chr5:92025087-92025088	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373937123	chr5:92025101-92025102	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs180875459	chr5:92025112-92025113	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs552326271	chr5:92025200-92025201	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs186570721	chr5:92025222-92025223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201387509	chr5:92025320-92025321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190326892	chr5:92025327-92025328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116772096	chr5:92025354-92025355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532475678	chr5:92025402-92025403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568349286	chr5:92025403-92025404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370133160	chr5:92025431-92025432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556086044	chr5:92025470-92025471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143029307	chr5:92025498-92025499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556179234	chr5:92025591-92025592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576112643	chr5:92025599-92025600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374292863	chr5:92025668-92025669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538778941	chr5:92025705-92025706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77837192	chr5:92025761-92025762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146193016	chr5:92025772-92025773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572706996	chr5:92025786-92025787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182097312	chr5:92025805-92025806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561418009	chr5:92025816-92025817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541019577	chr5:92025887-92025888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543424443	chr5:92025970-92025971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186639181	chr5:92025981-92025982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540867439	chr5:92026001-92026002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147975430	chr5:92026023-92026024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551950592	chr5:92026048-92026049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13175613	chr5:92026071-92026072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528226169	chr5:92026093-92026094	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548414127	chr5:92026127-92026128	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs568005324	chr5:92026128-92026129	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs200610672	chr5:92026237-92026238	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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	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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92024200-92025800	Enhancers	Liver	Liver
2	chr5:92024600-92025400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:92025800-92029800	Weak transcription	Liver	Liver
4	chr5:92029800-92031000	Enhancers	Liver	Liver
5	chr5:92031000-92031800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:92031000-92031800	Flanking Active TSS	Liver	Liver
7	chr5:92031000-92032400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:92031000-92032600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:92031200-92031600	Enhancers	HepG2	liver
10	chr5:92031400-92031800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:92031800-92032400	Enhancers	Liver	Liver
12	chr5:92032600-92033200	Enhancers	Fetal Brain Female	brain
13	chr5:92038000-92038400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:92038000-92040600	Enhancers	Fetal Heart	heart
15	chr5:92038400-92039600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:92039400-92040400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:92039600-92040400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:92039600-92041000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:92039600-92041200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:92039800-92040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:92039800-92040600	Enhancers	Osteobl	bone
22	chr5:92040200-92040600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:92040200-92041200	Enhancers	NHDF-Ad	bronchial
24	chr5:92045400-92045800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:92045800-92049800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:92047800-92048000	Enhancers	Fetal Lung	lung
27	chr5:92048000-92049000	Weak transcription	Fetal Lung	lung
28	chr5:92049000-92049400	Enhancers	Fetal Kidney	kidney
29	chr5:92049000-92049600	Enhancers	Fetal Lung	lung
30	chr5:92049200-92050000	Enhancers	Liver	Liver
31	chr5:92049400-92052000	Weak transcription	Fetal Kidney	kidney
32	chr5:92049800-92050000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:92050000-92052000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:92050800-92052000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:92051000-92051800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:92052000-92052200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:92052000-92052400	Enhancers	Fetal Kidney	kidney
38	chr5:92052000-92055800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:92053400-92053800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:92065000-92065200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:92065800-92066200	Enhancers	Fetal Lung	lung

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