Variant report

Variant	nsv511310
Chromosome Location	chr5:45003293-45038026
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	chr5:45017504-45017655	GM12878	blood:	n/a	n/a
2	BATF	chr5:45017733-45018036	GM12878	blood:	n/a	chr5:45017901-45017912
3	BCL11A	chr5:45017743-45018109	GM12878	blood:	n/a	n/a
4	CEBPB	chr5:45024506-45024752	A549	lung:	n/a	chr5:45024594-45024605
5	CEBPB	chr5:45024438-45024736	HepG2	liver:	n/a	chr5:45024594-45024605
6	CEBPB	chr5:45009705-45009856	A549	lung:	n/a	n/a
7	CTCF	chr5:45016171-45016265	Fibrobl	skin:	n/a	n/a
8	CTCF	chr5:45036300-45036450	SAEC	small airway:	n/a	n/a
9	E2F4	chr5:45017721-45017920	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr5:45029730-45029955	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr5:45017733-45018019	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr5:45029654-45030024	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr5:45017521-45018055	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr5:45029640-45030004	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr5:45017480-45018062	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr5:45029647-45030000	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr5:45029639-45030004	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr5:45017541-45018000	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXM1	chr5:45017711-45018130	GM12878	blood:	n/a	n/a
20	HEY1	chr5:45016361-45016469	HepG2	liver:	n/a	n/a
21	JUN	chr5:45016843-45016968	HepG2	liver:	n/a	chr5:45016866-45016879
22	JUND	chr5:45029754-45029983	HepG2	liver:	n/a	chr5:45029828-45029839
23	JUND	chr5:45016770-45016951	HepG2	liver:	n/a	n/a
24	MAFF	chr5:45007223-45007583	HepG2	liver:	n/a	chr5:45007358-45007376 chr5:45007407-45007425
25	MAFF	chr5:45016219-45016740	HepG2	liver:	n/a	chr5:45016320-45016338
26	MAFF	chr5:45007358-45007558	K562	blood:	n/a	chr5:45007358-45007376 chr5:45007407-45007425
27	MAFK	chr5:45016286-45016728	HepG2	liver:	n/a	chr5:45016603-45016614 chr5:45016603-45016618 chr5:45016603-45016614 chr5:45016602-45016616 chr5:45016604-45016615 chr5:45016603-45016619 chr5:45016604-45016615
28	MAFK	chr5:45016230-45016741	HepG2	liver:	n/a	chr5:45016603-45016614 chr5:45016603-45016618 chr5:45016603-45016614 chr5:45016602-45016616 chr5:45016604-45016615 chr5:45016603-45016619 chr5:45016604-45016615
29	MAFK	chr5:45029206-45029326	HepG2	liver:	n/a	n/a
30	MAFK	chr5:45037320-45037607	HepG2	liver:	n/a	chr5:45037473-45037484 chr5:45037468-45037478 chr5:45037474-45037485 chr5:45037474-45037485 chr5:45037472-45037486
31	MAFK	chr5:45007200-45007594	HepG2	liver:	n/a	chr5:45007219-45007235 chr5:45007408-45007423 chr5:45007359-45007374
32	MAFK	chr5:45007208-45007593	HepG2	liver:	n/a	chr5:45007219-45007235 chr5:45007408-45007423 chr5:45007359-45007374
33	MAFK	chr5:45007227-45007582	IMR90	lung:	n/a	chr5:45007408-45007423 chr5:45007359-45007374
34	MAFK	chr5:45007360-45007434	H1-hESC	embryonic stem cell:	n/a	chr5:45007408-45007423
35	MAFK	chr5:45029980-45030180	IMR90	lung:	n/a	n/a
36	MAFK	chr5:45007289-45007552	K562	blood:	n/a	chr5:45007408-45007423 chr5:45007359-45007374
37	MAFK	chr5:45007252-45007548	Hela-S3	cervix:	n/a	chr5:45007408-45007423 chr5:45007359-45007374
38	MAFK	chr5:45003590-45003789	HepG2	liver:	n/a	chr5:45003678-45003692
39	MAFK	chr5:45016240-45016643	IMR90	lung:	n/a	chr5:45016603-45016614 chr5:45016603-45016618 chr5:45016603-45016614 chr5:45016602-45016616 chr5:45016604-45016615 chr5:45016603-45016619 chr5:45016604-45016615
40	MAX	chr5:45018507-45018870	NB4	blood:	n/a	chr5:45018603-45018613
41	MEF2C	chr5:45017675-45018059	GM12878	blood:	n/a	chr5:45018012-45018023 chr5:45017995-45018009
42	MXI1	chr5:45015428-45015430	K562	blood:	n/a	n/a
43	NFIC	chr5:45017586-45018063	GM12878	blood:	n/a	n/a
44	NFYB	chr5:45016306-45016623	K562	blood:	n/a	chr5:45016486-45016501 chr5:45016461-45016476
45	NFYB	chr5:45007376-45007647	K562	blood:	n/a	n/a
46	NFYB	chr5:45007319-45007554	Hela-S3	cervix:	n/a	chr5:45007328-45007343 chr5:45007353-45007368
47	NFYB	chr5:45016285-45016896	Hela-S3	cervix:	n/a	chr5:45016486-45016501 chr5:45016461-45016476
48	NFYB	chr5:45016303-45016736	GM12878	blood:	n/a	chr5:45016486-45016501 chr5:45016461-45016476
49	POLR2A	chr5:45035964-45036019	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr5:45021958-45021971	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:45037646..45040960-chr5:45042639..45045311,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS30-3	chr5:45035301-45035378	XLOC_004374

Variant related genes	Relation type
ENSG00000248148	TF binding region

Extended variants
information (count: 524 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543449479	chr5:45021414-45021415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370489775	chr5:45021451-45021452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111496654	chr5:45021513-45021514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534746602	chr5:45021514-45021515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183404953	chr5:45021516-45021517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542364174	chr5:45021543-45021544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187814846	chr5:45021553-45021554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528678630	chr5:45021581-45021582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192386709	chr5:45021587-45021588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551643422	chr5:45021626-45021627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182214430	chr5:45021629-45021630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78623137	chr5:45021634-45021635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187721868	chr5:45021665-45021666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111347238	chr5:45021750-45021751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552985363	chr5:45021777-45021778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550995166	chr5:45021778-45021779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71610388	chr5:45021804-45021805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567554545	chr5:45021814-45021815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370157104	chr5:45021837-45021838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536722363	chr5:45021902-45021903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546793820	chr5:45021907-45021908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192787319	chr5:45021956-45021957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184881271	chr5:45021972-45021973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558078579	chr5:45021998-45021999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578027315	chr5:45021999-45022000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190106554	chr5:45022003-45022004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556871018	chr5:45022014-45022015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142609091	chr5:45022054-45022055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542674719	chr5:45022092-45022093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192105366	chr5:45022142-45022143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184414568	chr5:45022240-45022241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372383103	chr5:45022241-45022242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373936709	chr5:45022242-45022243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545244713	chr5:45022252-45022253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554727655	chr5:45022253-45022254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565229598	chr5:45022263-45022264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531069952	chr5:45022270-45022271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112568684	chr5:45022311-45022312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75556319	chr5:45022340-45022341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530073307	chr5:45022370-45022371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189468527	chr5:45022376-45022377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148235268	chr5:45022443-45022444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141361358	chr5:45022462-45022463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376875903	chr5:45022467-45022468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548255132	chr5:45022470-45022471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200623554	chr5:45022480-45022481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371272116	chr5:45022524-45022525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551558762	chr5:45022526-45022527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545549638	chr5:45022553-45022554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571473154	chr5:45022559-45022560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	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
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45021400-45030200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:45024400-45024800	Enhancers	Liver	Liver
3	chr5:45030200-45030400	Strong transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:45030400-45036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:45036000-45036200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:45036000-45036200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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