Variant report

Variant	nsv1006711
Chromosome Location	chr1:73711316-73769203
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	CEBPB	chr1:73760044-73760362	HepG2	liver:	n/a	chr1:73760197-73760208
2	CTCF	chr1:73716102-73716104	GM20000	blood:	n/a	n/a
3	CTCF	chr1:73711680-73711830	GM12866	blood:	n/a	n/a
4	CTCF	chr1:73758420-73758570	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr1:73730377-73730445	GM13976	blood:	n/a	n/a
6	CTCF	chr1:73716060-73716095	GM20000	blood:	n/a	n/a
7	E2F4	chr1:73718085-73718348	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr1:73724536-73724720	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr1:73739223-73739363	K562	blood:	n/a	n/a
10	FAM48A	chr1:73737597-73737754	GM12878	blood:	n/a	n/a
11	KAP1	chr1:73735186-73735574	HEK293	kidney:	n/a	n/a
12	KAP1	chr1:73710812-73711343	K562	blood:	n/a	n/a
13	MAFF	chr1:73739674-73739874	K562	blood:	n/a	chr1:73739762-73739780
14	MAFF	chr1:73739604-73739939	HepG2	liver:	n/a	chr1:73739762-73739780
15	MAFK	chr1:73716800-73716888	HepG2	liver:	n/a	n/a
16	MAFK	chr1:73739600-73739949	IMR90	lung:	n/a	chr1:73739763-73739778
17	MAFK	chr1:73739599-73739942	HepG2	liver:	n/a	chr1:73739763-73739778
18	MAFK	chr1:73739589-73739951	HepG2	liver:	n/a	chr1:73739763-73739778
19	MAFK	chr1:73719876-73719927	HepG2	liver:	n/a	n/a
20	MAFK	chr1:73758366-73758511	HepG2	liver:	n/a	n/a
21	MAZ	chr1:73731812-73731928	HepG2	liver:	n/a	n/a
22	MYC	chr1:73722721-73722972	MCF10A-Er-Src	breast:	n/a	chr1:73722853-73722864
23	MYC	chr1:73722866-73722891	NB4	blood:	n/a	n/a
24	NFYB	chr1:73719718-73720214	K562	blood:	n/a	n/a
25	NFYB	chr1:73719705-73720086	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:73741795-73742232	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr1:73718857-73718883	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr1:73741731-73742224	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr1:73756838-73756873	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr1:73765422-73765609	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr1:73731006-73731310	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr1:73767732-73767790	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr1:73745564-73745566	MCF10A-Er-Src	breast:	n/a	n/a
34	RFX5	chr1:73759983-73759985	K562	blood:	n/a	n/a
35	STAT3	chr1:73758833-73758839	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr1:73747715-73747915	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr1:73752660-73752852	MCF10A-Er-Src	breast:	n/a	n/a
38	WRNIP1	chr1:73745078-73745278	GM12878	blood:	n/a	n/a
39	ZNF143	chr1:73735395-73735628	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZNF274	chr1:73725211-73725977	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:73719821..73721687-chr1:73728566..73730529,2	K562	blood:
2	chr1:73719821..73721687-chr1:73728566..73730529,2	K562	blood:

Variant related genes	Relation type
ENSG00000233973	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10890027	chr1:73745221-73745222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572042292	chr1:73745298-73745299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34309950	chr1:73745322-73745323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540664044	chr1:73745354-73745355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548666369	chr1:73745377-73745378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143965080	chr1:73745392-73745393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190653100	chr1:73752815-73752816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534075619	chr1:73752861-73752862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543260213	chr1:73752879-73752880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182507047	chr1:73752880-73752881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562950214	chr1:73752881-73752882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531899734	chr1:73752931-73752932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187018210	chr1:73752974-73752975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565355240	chr1:73752975-73752976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558407345	chr1:73766641-73766642	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149564915	chr1:73766678-73766679	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs532251574	chr1:73766681-73766682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540818928	chr1:73766702-73766703	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113512994	chr1:73766703-73766704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560434342	chr1:73766742-73766743	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116371158	chr1:73766799-73766800	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146138185	chr1:73766827-73766828	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs543113138	chr1:73766842-73766843	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs9659370	chr1:73766875-73766876	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182662313	chr1:73766909-73766910	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551736676	chr1:73766954-73766955	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs9659110	chr1:73766985-73766986	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs78919999	chr1:73766997-73766998	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569409531	chr1:73767733-73767734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs538302024	chr1:73767735-73767736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs552160173	chr1:73767737-73767738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs565505477	chr1:73767756-73767757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs146857502	chr1:73767760-73767761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs148566189	chr1:73767790-73767791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73745200-73745400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:73752800-73753000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:73766600-73766800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:73766800-73767000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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