Variant report

Variant	nsv945998
Chromosome Location	chr1:73564960-73573389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:73567904-73567996	H1-hESC	embryonic stem cell:	n/a	chr1:73567956-73567967
2	CEBPB	chr1:73567817-73568138	HepG2	liver:	n/a	chr1:73567956-73567967
3	CTCF	chr1:73566040-73566190	HL-60	blood:	n/a	n/a
4	CTCF	chr1:73566000-73566150	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr1:73566060-73566210	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr1:73565973-73566213	T-47D	breast:	n/a	n/a
7	CTCF	chr1:73566040-73566190	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr1:73566107-73566180	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr1:73566055-73566226	Medullo	brain:	n/a	n/a
10	CTCF	chr1:73571640-73571650	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr1:73566045-73566210	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr1:73566037-73566202	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:73565980-73566130	HMEC	breast:	n/a	n/a
14	CTCF	chr1:73565980-73566130	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr1:73566040-73566190	NHEK	skin:	n/a	n/a
16	CTCF	chr1:73571655-73571668	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr1:73571600-73571750	HepG2	liver:	n/a	n/a
18	CTCF	chr1:73565916-73566304	T-47D	breast:	n/a	n/a
19	CTCF	chr1:73566016-73566213	LNCaP	prostate:	n/a	n/a
20	CTCF	chr1:73566060-73566210	RPTEC	kidney:	n/a	n/a
21	CTCF	chr1:73566100-73566250	HMEC	breast:	n/a	n/a
22	CTCF	chr1:73565940-73566090	RPTEC	kidney:	n/a	n/a
23	CTCF	chr1:73566060-73566210	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr1:73566042-73566215	LNCaP	prostate:	n/a	n/a
25	CTCF	chr1:73565941-73566244	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:73566092-73566156	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:73565272-73565325	H1-hESC	embryonic stem cell:	n/a	n/a
28	EBF1	chr1:73565667-73565798	GM12878	blood:	n/a	chr1:73565746-73565757
29	GATA3	chr1:73572705-73572954	T-47D	breast:	n/a	n/a
30	MAX	chr1:73566009-73566191	NB4	blood:	n/a	n/a
31	MYC	chr1:73565968-73566044	NB4	blood:	n/a	n/a
32	POLR2A	chr1:73566640-73566718	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr1:73571412-73571455	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:73566339-73566376	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr1:73571639-73571689	MCF-7	breast:	n/a	n/a
36	POLR2A	chr1:73570486-73570592	A549	lung:	n/a	n/a
37	RAD21	chr1:73565895-73566293	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr1:73565958-73566185	SK-N-SH_RA	brain:	n/a	n/a
39	RAD21	chr1:73565945-73566185	SK-N-SH_RA	brain:	n/a	n/a
40	RAD21	chr1:73565793-73566405	SK-N-SH	brain:	n/a	n/a
41	RAD21	chr1:73565845-73566236	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr1:73565792-73566284	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr1:73565055-73565444	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr1:73565956-73566283	Hela-S3	cervix:	n/a	n/a
45	RAD21	chr1:73565890-73566225	ECC-1	luminal epithelium:	n/a	n/a
46	SMC3	chr1:73566006-73566244	Hela-S3	cervix:	n/a	n/a

No data

Variant related genes	Relation type
KRT8P21	TF binding region

Extended variants
information (count: 343 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60357441	chr1:73564973-73564974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192026828	chr1:73565001-73565002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61029701	chr1:73565024-73565025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs58687178	chr1:73565028-73565029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543434789	chr1:73565227-73565228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57345656	chr1:73565254-73565255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375206429	chr1:73565272-73565273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576631335	chr1:73565293-73565294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545284266	chr1:73565294-73565295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61767579	chr1:73565301-73565302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527806088	chr1:73565310-73565311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541155224	chr1:73565311-73565312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561031405	chr1:73565350-73565351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113658225	chr1:73565403-73565404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201756303	chr1:73565406-73565407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530747418	chr1:73565434-73565435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549718221	chr1:73565441-73565442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569859999	chr1:73565482-73565483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532400366	chr1:73565530-73565531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12729749	chr1:73565568-73565569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565893568	chr1:73565582-73565583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534791276	chr1:73565689-73565690	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554743502	chr1:73565697-73565698	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs149263832	chr1:73565701-73565702	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs183026415	chr1:73565830-73565831	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs372300941	chr1:73565874-73565875	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs556877151	chr1:73565924-73565925	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs576681929	chr1:73565948-73565949	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113245179	chr1:73565952-73565953	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs74225831	chr1:73565972-73565973	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs114228972	chr1:73566022-73566023	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541217461	chr1:73566027-73566028	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs75369779	chr1:73566032-73566033	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs561274681	chr1:73566036-73566037	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs187964625	chr1:73566075-73566076	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs78959136	chr1:73566076-73566077	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563669315	chr1:73566127-73566128	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs532378298	chr1:73566177-73566178	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs552475500	chr1:73566193-73566194	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs139235055	chr1:73566207-73566208	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs74091275	chr1:73566313-73566314	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192916119	chr1:73566333-73566334	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs565624633	chr1:73566373-73566374	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs74091277	chr1:73566400-73566401	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550328517	chr1:73566418-73566419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570456510	chr1:73566455-73566456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74091279	chr1:73566461-73566462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551899751	chr1:73566465-73566466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184135082	chr1:73566486-73566487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550139263	chr1:73566487-73566488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73562000-73565400	Enhancers	Fetal Heart	heart
2	chr1:73563600-73566200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:73563800-73565000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:73564000-73565200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:73565000-73566000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:73565200-73565400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:73565200-73565600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:73565200-73565600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:73565600-73570600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:73566200-73566400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:73570600-73571800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:73570800-73572000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr1:73572000-73580000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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