Variant report

Variant	nsv871703
Chromosome Location	chr1:71093805-71127061
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	CBX3	chr1:71093472-71093954	K562	blood:	n/a	n/a
2	CEBPB	chr1:71093638-71093872	K562	blood:	n/a	n/a
3	CEBPB	chr1:71105483-71105770	HepG2	liver:	n/a	chr1:71105618-71105629
4	CEBPB	chr1:71105501-71105717	K562	blood:	n/a	chr1:71105618-71105629
5	CEBPB	chr1:71112004-71112170	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:71093610-71093911	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr1:71093627-71093850	K562	blood:	n/a	n/a
8	CEBPB	chr1:71110812-71110949	K562	blood:	n/a	n/a
9	CTCF	chr1:71094813-71094873	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:71100068-71100105	Gliobla	brain:	n/a	n/a
11	CTCF	chr1:71094797-71094812	LNCaP	prostate:	n/a	n/a
12	CTCF	chr1:71094700-71094850	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:71094801-71094869	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr1:71098693-71098914	K562	blood:	n/a	n/a
15	CTCF	chr1:71094805-71094868	GM20000	blood:	n/a	n/a
16	CTCF	chr1:71094723-71094908	K562	blood:	n/a	n/a
17	CTCF	chr1:71094732-71094901	K562	blood:	n/a	n/a
18	CTCF	chr1:71094820-71094970	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr1:71094843-71094862	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr1:71094740-71094890	HepG2	liver:	n/a	n/a
21	CTCF	chr1:71094782-71094865	Fibrobl	skin:	n/a	n/a
22	CTCF	chr1:71094798-71094817	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr1:71094720-71094870	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr1:71098740-71098890	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr1:71114940-71115090	GM12867	blood:	n/a	n/a
26	CTCF	chr1:71094694-71094946	K562	blood:	n/a	n/a
27	CTCF	chr1:71094773-71094869	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:71094780-71094930	MCF-7	breast:	n/a	n/a
29	EP300	chr1:71122019-71122521	SK-N-SH_RA	brain:	n/a	chr1:71122248-71122257 chr1:71122084-71122094 chr1:71122249-71122258
30	EP300	chr1:71121927-71122623	SK-N-SH	brain:	n/a	chr1:71122248-71122257 chr1:71122084-71122094 chr1:71122249-71122258
31	EP300	chr1:71122106-71122432	SK-N-SH_RA	brain:	n/a	chr1:71122248-71122257 chr1:71122249-71122258
32	FOS	chr1:71093542-71093969	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr1:71096487-71096826	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr1:71093566-71093914	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr1:71104388-71104664	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr1:71122227-71122296	MCF10A-Er-Src	breast:	n/a	chr1:71122249-71122257 chr1:71122249-71122258 chr1:71122248-71122257 chr1:71122247-71122259 chr1:71122249-71122256
37	FOS	chr1:71093536-71093913	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr1:71096514-71096785	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr1:71093587-71093907	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr1:71104456-71104678	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr1:71122208-71122408	MCF10A-Er-Src	breast:	n/a	chr1:71122249-71122257 chr1:71122249-71122258 chr1:71122248-71122257 chr1:71122247-71122259 chr1:71122249-71122256
42	FOS	chr1:71096547-71096803	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr1:71096460-71096834	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr1:71122121-71122290	MCF10A-Er-Src	breast:	n/a	chr1:71122249-71122257 chr1:71122249-71122258 chr1:71122248-71122257 chr1:71122247-71122259 chr1:71122249-71122256
45	FOSL2	chr1:71122055-71122382	SK-N-SH	brain:	n/a	chr1:71122249-71122257 chr1:71122249-71122258 chr1:71122248-71122257 chr1:71122247-71122259 chr1:71122249-71122256
46	FOSL2	chr1:71121965-71122529	SK-N-SH	brain:	n/a	chr1:71122249-71122257 chr1:71122249-71122258 chr1:71122248-71122257 chr1:71122247-71122259 chr1:71122249-71122256
47	FOXA1	chr1:71094727-71094941	T-47D	breast:	n/a	n/a
48	GATA2	chr1:71108403-71108854	SH-SY5Y	brain:	n/a	n/a
49	GATA2	chr1:71115554-71115898	SH-SY5Y	brain:	n/a	chr1:71115826-71115836
50	GATA3	chr1:71108462-71108662	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:71113661..71115986-chr1:71510232..71513062,3	K562	blood:
2	chr1:71124304..71124824-chr2:161134910..161135854,3	MCF-7	breast:
3	chr1:71093858..71095458-chr1:71099227..71103372,3	K562	blood:
4	chr1:71095861..71098505-chr1:71102216..71104078,2	K562	blood:
5	chr1:71092364..71093880-chr1:71095462..71097531,2	K562	blood:
6	chr1:71092364..71093880-chr1:71095462..71097531,2	K562	blood:
7	chr1:71093858..71095458-chr1:71099227..71103372,3	K562	blood:
8	chr1:71095861..71098505-chr1:71102216..71104078,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTGER3-2	chr1:71110666-71110727	XLOC_000868
2	lnc-PTGER3-2	chr1:71114347-71114581	XLOC_000868
3	lnc-PTGER3-9	chr1:71126340-71126948	NONHSAT003863

Variant related genes	Relation type
CASP3P1	TF binding region

Extended variants
information (count: 360 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189992127	chr1:71094813-71094814	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181251646	chr1:71094829-71094830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538441900	chr1:71094877-71094878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535850313	chr1:71094889-71094890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538028788	chr1:71094890-71094891	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs566031181	chr1:71094892-71094893	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571929558	chr1:71094897-71094898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7525909	chr1:71094903-71094904	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553393213	chr1:71094998-71094999	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573299277	chr1:71095026-71095027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535799421	chr1:71095034-71095035	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556232875	chr1:71095052-71095053	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148998344	chr1:71095055-71095056	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs576024719	chr1:71095057-71095058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368286569	chr1:71095058-71095059	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs61778672	chr1:71095061-71095062	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186283506	chr1:71095091-71095092	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148210684	chr1:71095121-71095122	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77457948	chr1:71095168-71095169	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs12087314	chr1:71095174-71095175	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529306364	chr1:71095191-71095192	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs191933059	chr1:71098844-71098845	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs573550609	chr1:71098850-71098851	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs11584190	chr1:71098885-71098886	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183349987	chr1:71098919-71098920	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs571716693	chr1:71098931-71098932	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs72684705	chr1:71098941-71098942	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149655390	chr1:71098972-71098973	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs374199264	chr1:71098996-71098997	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs189178727	chr1:71099089-71099090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193076869	chr1:71099102-71099103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201440562	chr1:71099165-71099166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78732925	chr1:71099166-71099167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546353453	chr1:71099171-71099172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183799498	chr1:71110720-71110721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs545230522	chr1:71111621-71111622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559096335	chr1:71111660-71111661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369093713	chr1:71111704-71111705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569325220	chr1:71111718-71111719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12140094	chr1:71111771-71111772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111356844	chr1:71111848-71111849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561380473	chr1:71111934-71111935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529726241	chr1:71111953-71111954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28415396	chr1:71111969-71111970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563402951	chr1:71112007-71112008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530588346	chr1:71112017-71112018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377509013	chr1:71112057-71112058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543922510	chr1:71112058-71112059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186216401	chr1:71112061-71112062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563613248	chr1:71112067-71112068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71094800-71095200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:71098800-71099000	Bivalent Enhancer	Left Ventricle	heart
3	chr1:71098800-71099200	Enhancers	Brain Substantia Nigra	brain
4	chr1:71111600-71115400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:71115400-71116000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:71115400-71116200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:71115400-71116800	Enhancers	Fetal Heart	heart
8	chr1:71119800-71120000	Enhancers	NHDF-Ad	bronchial
9	chr1:71120200-71121800	Weak transcription	NHDF-Ad	bronchial
10	chr1:71121400-71122800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:71121800-71122600	Enhancers	NHDF-Ad	bronchial

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