Variant report

Variant	nsv160302
Chromosome Location	chr1:67079017-67080809
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	chr1:67078905-67079239	IMR90	lung:	n/a	n/a
2	CTCF	chr1:67079037-67079078	Gliobla	brain:	n/a	n/a
3	CTCF	chr1:67079000-67079150	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr1:67080808-67080896	GM10248	blood:	n/a	n/a
5	CTCF	chr1:67078960-67079110	HCPEpiC	choroid plexus:	n/a	n/a
6	FOS	chr1:67078969-67079107	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:67078979-67079116	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:67079003-67079076	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr1:67079002-67079113	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr1:67079065-67079171	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
SGIP1	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531899755	chr1:67079025-67079026	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs76562522	chr1:67079052-67079053	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs182487000	chr1:67079058-67079059	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs527997033	chr1:67079068-67079069	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs373139917	chr1:67079072-67079073	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373604664	chr1:67079074-67079075	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs116294920	chr1:67079078-67079079	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs140360690	chr1:67079105-67079106	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549030495	chr1:67079229-67079230	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs568883992	chr1:67079262-67079263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189205763	chr1:67079292-67079293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557539525	chr1:67079319-67079320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191943881	chr1:67079341-67079342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145525355	chr1:67079363-67079364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138148386	chr1:67079374-67079375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200620638	chr1:67079376-67079377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142717370	chr1:67079406-67079407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530893271	chr1:67079420-67079421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542670991	chr1:67079444-67079445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111442295	chr1:67079448-67079449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183855830	chr1:67079452-67079453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551285229	chr1:67079474-67079475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576462157	chr1:67079478-67079479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34357173	chr1:67079491-67079492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567314337	chr1:67079507-67079508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545540532	chr1:67079528-67079529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150195961	chr1:67079542-67079543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577916459	chr1:67079588-67079589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187530149	chr1:67079656-67079657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191988223	chr1:67079660-67079661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184224376	chr1:67079691-67079692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76997040	chr1:67079696-67079697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187055332	chr1:67079711-67079712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9787184	chr1:67079741-67079742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533822634	chr1:67079800-67079801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548706810	chr1:67079837-67079838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562563857	chr1:67079845-67079846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192765365	chr1:67079857-67079858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75949757	chr1:67079861-67079862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373603775	chr1:67079877-67079878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571137205	chr1:67079917-67079918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533819318	chr1:67079920-67079921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547253321	chr1:67079922-67079923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567470991	chr1:67079958-67079959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548936882	chr1:67079987-67079988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138745989	chr1:67079995-67079996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556289112	chr1:67079999-67080000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184258256	chr1:67080033-67080034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190794330	chr1:67080079-67080080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182087047	chr1:67080142-67080143	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67058000-67092200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:67065800-67082800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:67066200-67083800	Weak transcription	NHLF	lung
4	chr1:67066400-67089600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:67068000-67082600	Weak transcription	NHDF-Ad	bronchial
6	chr1:67071600-67094800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:67074000-67081200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:67075400-67079400	Weak transcription	Fetal Heart	heart
9	chr1:67077400-67081000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:67078000-67081600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:67078000-67088400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:67078800-67079200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:67079000-67079200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:67079000-67079200	Enhancers	Aorta	Aorta
15	chr1:67079200-67079400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:67079200-67079400	Weak transcription	Aorta	Aorta
17	chr1:67079200-67083200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:67079400-67079800	Enhancers	Fetal Heart	heart
19	chr1:67079400-67083800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links