Variant report

Variant	nsv546444
Chromosome Location	chr1:67279194-67294143
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	chr1:67280035-67280061	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr1:67282436-67282636	K562	blood:	n/a	chr1:67282528-67282541 chr1:67282528-67282541 chr1:67282528-67282541 chr1:67282530-67282541
3	CEBPB	chr1:67280053-67280114	HepG2	liver:	n/a	n/a
4	CEBPB	chr1:67280010-67280235	K562	blood:	n/a	chr1:67280107-67280118
5	CEBPB	chr1:67282485-67282556	IMR90	lung:	n/a	chr1:67282528-67282541 chr1:67282528-67282541 chr1:67282528-67282541 chr1:67282530-67282541
6	CTCF	chr1:67289611-67289726	GM20000	blood:	n/a	n/a
7	CTCF	chr1:67281680-67281830	HFF-Myc	foreskin:	n/a	n/a
8	E2F4	chr1:67285902-67286102	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr1:67293932-67294124	MCF10A-Er-Src	breast:	n/a	n/a
10	JUN	chr1:67284802-67284903	K562	blood:	n/a	n/a
11	MYC	chr1:67291775-67291924	H1-hESC	embryonic stem cell:	n/a	n/a
12	NFYA	chr1:67285722-67285861	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:67291344-67291356	MCF10A-Er-Src	breast:	n/a	n/a
14	SPI1	chr1:67280709-67280843	K562	blood:	n/a	chr1:67280806-67280815 chr1:67280804-67280817
15	SPI1	chr1:67280553-67280996	HL-60	blood:	n/a	chr1:67280806-67280815 chr1:67280804-67280817
16	SPI1	chr1:67280669-67280935	HL-60	blood:	n/a	chr1:67280806-67280815 chr1:67280804-67280817
17	TAF1	chr1:67290111-67290190	Hela-S3	cervix:	n/a	n/a
18	TCF7L2	chr1:67285738-67285874	HepG2	liver:	n/a	n/a
19	ZNF274	chr1:67282948-67283072	NT2-D1	testis:	n/a	n/a
20	ZNF384	chr1:67286854-67286890	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:67279434..67281250-chr1:67282705..67284237,2	K562	blood:
2	chr1:67279522..67281219-chr1:67285864..67287900,2	K562	blood:
3	chr1:67279522..67281219-chr1:67285864..67287900,2	K562	blood:
4	chr1:67293404..67295635-chr1:67298470..67301604,3	K562	blood:
5	chr1:67279434..67281250-chr1:67282705..67284237,2	K562	blood:

Variant related genes	Relation type
ENSG00000231080	TF binding region

Extended variants
information (count: 577 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs504095	chr1:67279194-67279195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182235920	chr1:67279227-67279228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530232189	chr1:67279230-67279231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535008407	chr1:67279261-67279262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550306606	chr1:67279300-67279301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187333435	chr1:67279315-67279316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58207137	chr1:67279374-67279375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs61779966	chr1:67279429-67279430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527087	chr1:67279443-67279444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527182	chr1:67279485-67279486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181597459	chr1:67279514-67279515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553590379	chr1:67279522-67279523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573641525	chr1:67279554-67279555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534309570	chr1:67279567-67279568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572693858	chr1:67279569-67279570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535957519	chr1:67279575-67279576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556370261	chr1:67279593-67279594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575811036	chr1:67279616-67279617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112990923	chr1:67279628-67279629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368205184	chr1:67279660-67279661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185919944	chr1:67279687-67279688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572128431	chr1:67279718-67279719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368936214	chr1:67279763-67279764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370372429	chr1:67279802-67279803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561232962	chr1:67279833-67279834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148734945	chr1:67279835-67279836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373824005	chr1:67279843-67279844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151242450	chr1:67279856-67279857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181154367	chr1:67279858-67279859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74609208	chr1:67279881-67279882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371392757	chr1:67279883-67279884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532721020	chr1:67280028-67280029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375603145	chr1:67280061-67280062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533430	chr1:67280110-67280111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373788222	chr1:67280120-67280121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527293831	chr1:67280137-67280138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547410454	chr1:67280138-67280139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34968407	chr1:67280164-67280165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567148656	chr1:67280174-67280175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186058235	chr1:67280181-67280182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376046425	chr1:67280189-67280190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569529117	chr1:67280228-67280229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538416804	chr1:67280239-67280240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574580250	chr1:67280242-67280243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577826029	chr1:67280243-67280244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12744712	chr1:67280252-67280253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1966009	chr1:67280261-67280262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574717835	chr1:67280262-67280263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111858780	chr1:67280268-67280269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543915424	chr1:67280270-67280271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67276000-67293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:67276800-67336000	Weak transcription	Aorta	Aorta
3	chr1:67280000-67318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:67280400-67282800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:67280800-67306400	Weak transcription	Left Ventricle	heart
6	chr1:67281600-67335800	Weak transcription	Ovary	ovary
7	chr1:67288200-67299800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:67290200-67292600	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:67290200-67292800	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:67290400-67290600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
11	chr1:67290600-67300400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:67292200-67293600	Enhancers	Dnd41	blood

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