Variant report

Variant	nsv947187
Chromosome Location	chr1:78782938-78803357
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	chr1:78799187-78799342	GM12878	blood:	n/a	n/a
2	BHLHE40	chr1:78799389-78799413	K562	blood:	n/a	n/a
3	CBX3	chr1:78799051-78799452	HCT-116	colon:	n/a	n/a
4	CCNT2	chr1:78784728-78784878	K562	blood:	n/a	n/a
5	CEBPB	chr1:78799110-78799421	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:78799082-78799447	A549	lung:	n/a	n/a
7	CEBPB	chr1:78798955-78799578	HCT-116	colon:	n/a	n/a
8	CEBPB	chr1:78799074-78799506	MCF-7	breast:	n/a	n/a
9	CEBPB	chr1:78799134-78799410	A549	lung:	n/a	n/a
10	CEBPB	chr1:78799112-78799421	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr1:78785503-78785534	IMR90	lung:	n/a	chr1:78785521-78785530 chr1:78785519-78785532 chr1:78785521-78785532 chr1:78785519-78785532 chr1:78785521-78785530 chr1:78785519-78785532 chr1:78785521-78785532 chr1:78785521-78785530 chr1:78785521-78785530
12	CEBPB	chr1:78799190-78799489	ECC-1	luminal epithelium:	n/a	n/a
13	CEBPB	chr1:78789070-78789354	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr1:78799167-78799427	MCF-7	breast:	n/a	n/a
15	CEBPB	chr1:78799117-78799398	IMR90	lung:	n/a	n/a
16	CTCF	chr1:78799220-78799370	GM12878	blood:	n/a	chr1:78799281-78799290
17	CTCF	chr1:78799180-78799330	HepG2	liver:	n/a	chr1:78799281-78799290
18	CTCF	chr1:78799500-78799650	GM12872	blood:	n/a	n/a
19	CTCF	chr1:78799220-78799370	NHEK	skin:	n/a	chr1:78799281-78799290
20	CTCF	chr1:78799240-78799390	HEEpiC	esophagus:	n/a	chr1:78799281-78799290
21	CTCF	chr1:78799556-78799627	Gliobla	brain:	n/a	n/a
22	CTCF	chr1:78799200-78799350	GM12878	blood:	n/a	chr1:78799281-78799290
23	CTCF	chr1:78799183-78799406	GM20000	blood:	n/a	chr1:78799281-78799290
24	CTCF	chr1:78799200-78799350	GM12871	blood:	n/a	chr1:78799281-78799290
25	CTCF	chr1:78799240-78799390	HUVEC	blood vessel:	n/a	chr1:78799281-78799290
26	CTCF	chr1:78790995-78791270	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr1:78799200-78799350	HFF	foreskin:	n/a	chr1:78799281-78799290
28	CTCF	chr1:78784480-78784630	GM12878	blood:	n/a	n/a
29	CTCF	chr1:78791120-78791270	HCT-116	colon:	n/a	n/a
30	CTCF	chr1:78799220-78799370	BJ	skin:	n/a	chr1:78799281-78799290
31	CTCF	chr1:78799200-78799350	RPTEC	kidney:	n/a	chr1:78799281-78799290
32	CTCF	chr1:78791080-78791230	HEK293	kidney:	n/a	n/a
33	CTCF	chr1:78799220-78799370	HMEC	breast:	n/a	chr1:78799281-78799290
34	CTCF	chr1:78799220-78799370	SK-N-SH_RA	brain:	n/a	chr1:78799281-78799290
35	CTCF	chr1:78799200-78799350	SK-N-SH_RA	brain:	n/a	chr1:78799281-78799290
36	CTCF	chr1:78799233-78799374	H1-hESC	embryonic stem cell:	n/a	chr1:78799281-78799290
37	CTCF	chr1:78799197-78799404	NHEK	skin:	n/a	chr1:78799281-78799290
38	CTCF	chr1:78791137-78791217	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:78799200-78799350	K562	blood:	n/a	chr1:78799281-78799290
40	CTCF	chr1:78798820-78798970	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr1:78799200-78799350	HEEpiC	esophagus:	n/a	chr1:78799281-78799290
42	CTCF	chr1:78791147-78791199	GM12892	blood:	n/a	n/a
43	CTCF	chr1:78785220-78785370	GM12865	blood:	n/a	n/a
44	CTCF	chr1:78799120-78799270	BE2_C	brain:	n/a	n/a
45	CTCF	chr1:78790980-78791130	SAEC	small airway:	n/a	n/a
46	CTCF	chr1:78799200-78799350	A549	lung:	n/a	chr1:78799281-78799290
47	CTCF	chr1:78791145-78791215	GM19239	blood:	n/a	n/a
48	CTCF	chr1:78799160-78799310	GM12872	blood:	n/a	chr1:78799281-78799290
49	CTCF	chr1:78799583-78799599	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr1:78799220-78799370	GM12871	blood:	n/a	chr1:78799281-78799290

No.	Distal block	Cell Line	Cell type
1	chr1:78800150..78802250-chr1:78803313..78804839,2	K562	blood:
2	chr1:78800150..78802250-chr1:78803313..78804839,2	K562	blood:
3	chr1:78466521..78469448-chr1:78786020..78788848,2	K562	blood:

Variant related genes	Relation type
ENSG00000227556	TF binding region

Extended variants
information (count: 480 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534248999	chr1:78783072-78783073	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534774098	chr1:78783105-78783106	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534896773	chr1:78783117-78783118	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373493402	chr1:78783125-78783126	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs189192155	chr1:78783131-78783132	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs12044050	chr1:78783161-78783162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs545005913	chr1:78783172-78783173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563247200	chr1:78783180-78783181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555280711	chr1:78783184-78783185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79763713	chr1:78783199-78783200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78911465	chr1:78783209-78783210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561158948	chr1:78783211-78783212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181184664	chr1:78783255-78783256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528338991	chr1:78783266-78783267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116122762	chr1:78783302-78783303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10873975	chr1:78783316-78783317	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148017149	chr1:78783328-78783329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12025691	chr1:78783342-78783343	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569742386	chr1:78783382-78783383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543850935	chr1:78783428-78783429	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs114022834	chr1:78783454-78783455	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs186436035	chr1:78783462-78783463	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537456814	chr1:78783474-78783475	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201567662	chr1:78783508-78783509	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs567859662	chr1:78783519-78783520	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs11809342	chr1:78783526-78783527	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370583072	chr1:78783532-78783533	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs141032956	chr1:78783569-78783570	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs374665675	chr1:78783620-78783621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189991914	chr1:78783682-78783683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145135298	chr1:78783760-78783761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200018727	chr1:78783803-78783804	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs201814626	chr1:78783809-78783810	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs199602479	chr1:78783811-78783812	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs1410508	chr1:78783840-78783841	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575353363	chr1:78783873-78783874	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs542644983	chr1:78783954-78783955	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561166875	chr1:78783956-78783957	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs28448720	chr1:78783967-78783968	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs139011170	chr1:78783972-78783973	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs540436057	chr1:78784004-78784005	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs540580971	chr1:78784024-78784025	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs560382311	chr1:78784032-78784033	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs564900412	chr1:78784110-78784111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532312000	chr1:78784161-78784162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545131964	chr1:78784181-78784182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181538986	chr1:78784190-78784191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113211852	chr1:78784338-78784339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543098879	chr1:78784352-78784353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548925794	chr1:78784400-78784401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Ewing''s sarcoma	17952124	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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78783000-78783200	Enhancers	NHLF	lung
2	chr1:78783000-78784800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:78783200-78784400	Weak transcription	NHLF	lung
4	chr1:78783600-78784600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:78783800-78784800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:78784200-78784800	Enhancers	Osteobl	bone
7	chr1:78784400-78784800	Enhancers	NHLF	lung
8	chr1:78784800-78788400	Weak transcription	NHLF	lung
9	chr1:78784800-78788800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:78788400-78789200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:78788400-78789200	Enhancers	NHLF	lung
12	chr1:78788400-78789800	Enhancers	Hela-S3	cervix
13	chr1:78788800-78789600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:78791200-78791600	Enhancers	Liver	Liver
15	chr1:78794600-78795600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:78795000-78795400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:78799200-78799800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:78799400-78800000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:78799400-78800800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:78799400-78800800	Enhancers	NHLF	lung
21	chr1:78799600-78801400	Enhancers	NHDF-Ad	bronchial
22	chr1:78799800-78804200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:78800000-78800400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:78800000-78801400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:78800400-78801400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:78800800-78801200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:78800800-78804600	Weak transcription	NHLF	lung
28	chr1:78801200-78801600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:78801400-78804200	Weak transcription	NHDF-Ad	bronchial
30	chr1:78801400-78804800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:78801400-78805000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:78801600-78804600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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