Variant report

Variant	nsv1015738
Chromosome Location	chr5:16190125-16233136
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	BACH1	chr5:16221325-16221582	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr5:16208066-16208104	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr5:16225779-16225804	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr5:16219317-16219504	HepG2	liver:	n/a	chr5:16219411-16219422
5	CEBPB	chr5:16197748-16197902	HepG2	liver:	n/a	chr5:16197853-16197864
6	CTCF	chr5:16197719-16197814	GM20000	blood:	n/a	n/a
7	CTCF	chr5:16220100-16220250	GM12869	blood:	n/a	n/a
8	CTCF	chr5:16229560-16229710	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr5:16229540-16229690	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr5:16208340-16208409	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr5:16219520-16219670	Hela-S3	cervix:	n/a	n/a
12	CUX1	chr5:16208196-16208222	K562	blood:	n/a	n/a
13	E2F4	chr5:16223249-16223262	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr5:16232411-16232480	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F6	chr5:16225771-16226165	H1-hESC	embryonic stem cell:	n/a	n/a
16	EP300	chr5:16231626-16233121	SK-N-SH	brain:	n/a	chr5:16232244-16232251 chr5:16232062-16232072
17	GATA2	chr5:16226419-16226644	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr5:16232522-16232897	SH-SY5Y	brain:	n/a	chr5:16232644-16232651 chr5:16232642-16232658 chr5:16232816-16232837
19	GATA3	chr5:16231712-16232199	SK-N-SH	brain:	n/a	chr5:16231867-16231876
20	JUND	chr5:16194031-16194157	HepG2	liver:	n/a	n/a
21	MAFK	chr5:16201598-16201792	HepG2	liver:	n/a	n/a
22	MAFK	chr5:16229348-16229521	HepG2	liver:	n/a	n/a
23	MAX	chr5:16202478-16202686	NB4	blood:	n/a	chr5:16202485-16202495
24	MAX	chr5:16206016-16206309	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr5:16206114-16206297	Hela-S3	cervix:	n/a	n/a
26	MAX	chr5:16225849-16226079	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr5:16225852-16226048	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr5:16225877-16226071	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr5:16205418-16205500	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr5:16223755-16223878	HepG2	liver:	n/a	n/a
31	MYC	chr5:16221487-16221579	MCF-7	breast:	n/a	n/a
32	MYC	chr5:16205319-16205397	MCF-7	breast:	n/a	n/a
33	POLR2A	chr5:16195778-16195845	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr5:16204105-16204170	MCF-7	breast:	n/a	n/a
35	POLR2A	chr5:16204195-16204197	MCF-7	breast:	n/a	n/a
36	POLR2A	chr5:16210478-16210678	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr5:16195150-16195199	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:16205297-16205396	MCF-7	breast:	n/a	n/a
39	RAD21	chr5:16233042-16235303	SK-N-SH	brain:	n/a	n/a
40	RAD21	chr5:16229489-16229664	H1-hESC	embryonic stem cell:	n/a	n/a
41	RFX5	chr5:16212259-16212283	K562	blood:	n/a	n/a
42	SRF	chr5:16192478-16192657	GM12878	blood:	n/a	n/a
43	SRF	chr5:16192478-16192750	GM12878	blood:	n/a	n/a
44	STAT3	chr5:16224266-16224334	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr5:16226512-16226566	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr5:16194206-16194210	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr5:16222997-16223094	MCF10A-Er-Src	breast:	n/a	n/a
48	UBTF	chr5:16207888-16207956	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16224922..16226598-chr5:16244028..16246781,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCH11-3	chr5:16192197-16192818	NONHSAT100595

Variant related genes	Relation type
NACAP6	TF binding region

Extended variants
information (count: 614 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577381996	chr5:16192198-16192199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs544922785	chr5:16192209-16192210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs3849091	chr5:16192214-16192215	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575176499	chr5:16192266-16192267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs370716596	chr5:16192353-16192354	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs542296598	chr5:16192374-16192375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs560932956	chr5:16192395-16192396	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs528180264	chr5:16192443-16192444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs546637070	chr5:16192449-16192450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs560005941	chr5:16192454-16192455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs375549619	chr5:16192472-16192473	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs397804629	chr5:16192476-16192477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs368026769	chr5:16192480-16192481	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs371723073	chr5:16192503-16192504	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs372965594	chr5:16192539-16192540	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs62347060	chr5:16192576-16192577	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs553460661	chr5:16192596-16192597	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs75324654	chr5:16192649-16192650	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs3899926	chr5:16192650-16192651	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549155449	chr5:16192669-16192670	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs567609154	chr5:16192674-16192675	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs371033621	chr5:16192675-16192676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs542238261	chr5:16192687-16192688	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs577317446	chr5:16192705-16192706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs538477667	chr5:16192718-16192719	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs556727082	chr5:16192725-16192726	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs189392585	chr5:16192760-16192761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs555619070	chr5:16192782-16192783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs542856916	chr5:16192805-16192806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs554279831	chr5:16192814-16192815	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs114944038	chr5:16192815-16192816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs188751232	chr5:16194047-16194048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs192790923	chr5:16194056-16194057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550630325	chr5:16194127-16194128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs182375775	chr5:16194210-16194211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs10036617	chr5:16195151-16195152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs556529794	chr5:16195785-16195786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs574707998	chr5:16195788-16195789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs116265497	chr5:16195794-16195795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs560602666	chr5:16195818-16195819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs527775942	chr5:16195825-16195826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs113322298	chr5:16197723-16197724	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs140559049	chr5:16197735-16197736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs544649484	chr5:16197774-16197775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs114841207	chr5:16197786-16197787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530529361	chr5:16197806-16197807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs533737210	chr5:16197816-16197817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs562163236	chr5:16197818-16197819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs542515229	chr5:16201427-16201428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62347062	chr5:16201430-16201431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16201400-16202800	Enhancers	Dnd41	blood
2	chr5:16205200-16205400	Active TSS	Hela-S3	cervix
3	chr5:16205400-16205600	Flanking Active TSS	Hela-S3	cervix
4	chr5:16205600-16206200	Weak transcription	Hela-S3	cervix
5	chr5:16206000-16206400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:16206400-16207600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:16207800-16208000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:16221400-16221800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:16222800-16223400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:16223200-16223400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:16223200-16223600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr5:16223400-16223600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:16223400-16223600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:16223400-16224400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:16223600-16224600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:16224400-16224800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:16224600-16224800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:16224800-16225400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:16224800-16225400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:16225400-16225600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:16225400-16228400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:16225600-16230600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:16229000-16229200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:16229200-16230000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:16229600-16230200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:16230000-16230200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:16230200-16230400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:16230400-16231000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:16230600-16231200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:16231000-16232200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:16231200-16232400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:16232200-16233600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:16232400-16232600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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