Variant report

Variant	nsv945999
Chromosome Location	chr1:76047256-76048476
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	BHLHE40	chr1:76047972-76048172	K562	blood:	n/a	n/a
2	CTCF	chr1:76048362-76049178	SK-N-SH	brain:	n/a	n/a
3	EBF1	chr1:76047287-76047601	GM12878	blood:	n/a	chr1:76047451-76047462
4	EP300	chr1:76048450-76048855	SK-N-SH_RA	brain:	n/a	chr1:76048512-76048521
5	EP300	chr1:76048427-76048870	SK-N-SH_RA	brain:	n/a	chr1:76048512-76048521
6	GATA2	chr1:76048390-76049571	HUVEC	blood vessel:	n/a	chr1:76049095-76049107 chr1:76048510-76048520 chr1:76049169-76049178
7	GATA3	chr1:76048286-76049029	SK-N-SH	brain:	n/a	chr1:76048510-76048520
8	GATA3	chr1:76048233-76049075	SK-N-SH	brain:	n/a	chr1:76048510-76048520
9	PBX3	chr1:76048327-76049052	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr1:76048440-76048939	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:76047836-76048016	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:76047844-76047957	GM12878	blood:	n/a	n/a
13	RAD21	chr1:76048378-76049142	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr1:76048465-76048979	SK-N-SH_RA	brain:	n/a	n/a
15	SMC3	chr1:76048238-76049181	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr1:76048266-76049007	SK-N-SH	brain:	n/a	n/a
17	ZBTB33	chr1:76047773-76048034	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75731104..75731714-chr1:76048302..76048818,2	K562	blood:

Variant related genes	Relation type
ENSG00000213579	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559639435	chr1:76047266-76047267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183136142	chr1:76047356-76047357	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs552095849	chr1:76047371-76047372	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs144482879	chr1:76047450-76047451	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs76988066	chr1:76047453-76047454	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs188222844	chr1:76047520-76047521	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs192506183	chr1:76047587-76047588	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs375026465	chr1:76047588-76047589	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553797437	chr1:76047602-76047603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572084741	chr1:76047618-76047619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539476144	chr1:76047668-76047669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182047388	chr1:76047671-76047672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576552330	chr1:76047750-76047751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543721038	chr1:76047751-76047752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562077943	chr1:76047760-76047761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573971685	chr1:76047766-76047767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370595704	chr1:76047831-76047832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573038139	chr1:76047874-76047875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145377351	chr1:76047889-76047890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533269995	chr1:76047891-76047892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149188309	chr1:76047905-76047906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564144953	chr1:76047909-76047910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1831701	chr1:76047910-76047911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573572397	chr1:76047917-76047918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575455284	chr1:76047936-76047937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1831702	chr1:76048072-76048073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577472032	chr1:76048084-76048085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147995771	chr1:76048136-76048137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547084430	chr1:76048206-76048207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565620929	chr1:76048207-76048208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1412719	chr1:76048217-76048218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375079741	chr1:76048220-76048221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531965870	chr1:76048222-76048223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557798932	chr1:76048232-76048233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141983580	chr1:76048237-76048238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145734737	chr1:76048259-76048260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555533066	chr1:76048285-76048286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574003942	chr1:76048306-76048307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541281562	chr1:76048324-76048325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187785368	chr1:76048345-76048346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577938317	chr1:76048377-76048378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138646639	chr1:76048379-76048380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77733375	chr1:76048449-76048450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367912534	chr1:76048450-76048451	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76045800-76048400	Weak transcription	HUVEC	blood vessel
2	chr1:76048400-76049600	Enhancers	HUVEC	blood vessel

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