Variant report

Variant	nsv871150
Chromosome Location	chr1:74734443-74821837
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	chr1:74746472-74746612	K562	blood:	n/a	n/a
2	CEBPB	chr1:74783464-74783590	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:74777395-74777659	HepG2	liver:	n/a	chr1:74777540-74777553 chr1:74777541-74777552
4	CEBPB	chr1:74780245-74780491	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:74780146-74780463	IMR90	lung:	n/a	n/a
6	CEBPB	chr1:74764987-74765324	HepG2	liver:	n/a	chr1:74765155-74765166 chr1:74765142-74765150
7	CEBPB	chr1:74771504-74771688	HepG2	liver:	n/a	chr1:74771612-74771623
8	CEBPB	chr1:74768320-74768669	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:74808794-74809117	H1-hESC	embryonic stem cell:	n/a	chr1:74808957-74808968
10	CEBPB	chr1:74808826-74809251	IMR90	lung:	n/a	chr1:74808957-74808968
11	CEBPB	chr1:74764993-74765325	A549	lung:	n/a	chr1:74765155-74765166 chr1:74765142-74765150
12	CEBPB	chr1:74783362-74783693	HepG2	liver:	n/a	n/a
13	CEBPB	chr1:74808794-74809122	HepG2	liver:	n/a	chr1:74808957-74808968
14	CEBPZ	chr1:74790846-74791124	HepG2	liver:	n/a	n/a
15	CTCF	chr1:74737300-74737450	HRE	kidney:	n/a	n/a
16	CTCF	chr1:74807840-74807990	GM12868	blood:	n/a	n/a
17	CTCF	chr1:74790800-74790950	HepG2	liver:	n/a	n/a
18	CTCF	chr1:74779180-74779330	HAc	cerebellar:	n/a	n/a
19	CTCF	chr1:74737293-74737455	LNCaP	prostate:	n/a	n/a
20	CTCF	chr1:74761842-74761913	Fibrobl	skin:	n/a	n/a
21	CTCF	chr1:74737320-74737470	GM12864	blood:	n/a	n/a
22	CTCF	chr1:74817580-74817676	LNCaP	prostate:	n/a	n/a
23	CTCF	chr1:74737280-74737430	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr1:74737400-74737550	HMEC	breast:	n/a	n/a
25	CTCF	chr1:74737140-74737290	HCT-116	colon:	n/a	n/a
26	CTCF	chr1:74737340-74737490	HepG2	liver:	n/a	n/a
27	CTCF	chr1:74737378-74737427	LNCaP	prostate:	n/a	n/a
28	CTCF	chr1:74802103-74802213	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr1:74737320-74737470	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr1:74737347-74737405	GM19239	blood:	n/a	n/a
31	CTCF	chr1:74737355-74737403	HepG2	liver:	n/a	n/a
32	CTCF	chr1:74737346-74737388	GM12892	blood:	n/a	n/a
33	CTCF	chr1:74737280-74737430	GM12873	blood:	n/a	n/a
34	CTCF	chr1:74737315-74737416	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:74737260-74737410	HEK293	kidney:	n/a	n/a
36	CTCF	chr1:74737280-74737430	HepG2	liver:	n/a	n/a
37	CTCF	chr1:74737355-74737375	GM20000	blood:	n/a	n/a
38	CTCF	chr1:74737240-74737390	HEEpiC	esophagus:	n/a	n/a
39	E2F4	chr1:74776700-74776900	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr1:74791612-74791689	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr1:74759287-74759597	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F6	chr1:74782034-74782339	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr1:74781759-74782401	H1-hESC	embryonic stem cell:	n/a	n/a
44	EBF1	chr1:74762695-74763155	GM12878	blood:	n/a	chr1:74763014-74763025
45	EBF1	chr1:74742981-74743181	GM12878	blood:	n/a	chr1:74743034-74743045 chr1:74743035-74743045 chr1:74743036-74743045 chr1:74743034-74743047
46	ELK1	chr1:74801052-74801061	Hela-S3	cervix:	n/a	n/a
47	EP300	chr1:74808885-74809399	SK-N-SH_RA	brain:	n/a	chr1:74808954-74808968
48	EP300	chr1:74810115-74810398	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr1:74811735-74812661	SK-N-SH	brain:	n/a	chr1:74812280-74812290
50	EP300	chr1:74751713-74751762	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:74701198..74703916-chr1:74780316..74782785,2	K562	blood:
2	chr1:74622416..74625063-chr1:74764779..74767346,2	K562	blood:
3	chr1:74789903..74792042-chr1:74796412..74799113,2	MCF-7	breast:
4	chr1:74799781..74801961-chr1:74805527..74808251,2	MCF-7	breast:
5	chr1:74789903..74792042-chr1:74796412..74799113,2	MCF-7	breast:
6	chr1:74641537..74643099-chr1:74809509..74811733,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC53-1	chr1:74807263-74807671	ENSG00000237324.2
2	lnc-FPGT-7	chr1:74815702-74815781	ucscGeneNc_uc001dgh_2

Variant related genes	Relation type
TNNI3K	TF binding region
ENSG00000116783	chromatin interactions

Extended variants
information (count: 3277 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:3277 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10493540	chr1:74734443-74734444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556889510	chr1:74734451-74734452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549468126	chr1:74734472-74734473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142748157	chr1:74734485-74734486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567763002	chr1:74734500-74734501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534668048	chr1:74734522-74734523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546965184	chr1:74734558-74734559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147368624	chr1:74734566-74734567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74584747	chr1:74734582-74734583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539300161	chr1:74734615-74734616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555499177	chr1:74734630-74734631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544080701	chr1:74734646-74734647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139095510	chr1:74734653-74734654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543424735	chr1:74734657-74734658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572266990	chr1:74734658-74734659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369758592	chr1:74734695-74734696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149871371	chr1:74734716-74734717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573412911	chr1:74734750-74734751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540813336	chr1:74734771-74734772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189635728	chr1:74734799-74734800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143892901	chr1:74734803-74734804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115233209	chr1:74734810-74734811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113124429	chr1:74734815-74734816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182759899	chr1:74734817-74734818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71499326	chr1:74734818-74734819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200652160	chr1:74734819-74734820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187358051	chr1:74734828-74734829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561109444	chr1:74734833-74734834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528585257	chr1:74734852-74734853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75554739	chr1:74734874-74734875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115111542	chr1:74734883-74734884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538676566	chr1:74734918-74734919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550837090	chr1:74734932-74734933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529603375	chr1:74734956-74734957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58606066	chr1:74734958-74734959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569213765	chr1:74734963-74734964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544825635	chr1:74734968-74734969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191831307	chr1:74734984-74734985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554737977	chr1:74734998-74734999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573383686	chr1:74735022-74735023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565369769	chr1:74735030-74735031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563626754	chr1:74735066-74735067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529339796	chr1:74735083-74735084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563210102	chr1:74735099-74735100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369391038	chr1:74735110-74735111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534697613	chr1:74735121-74735122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs8179511	chr1:74735137-74735138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577537455	chr1:74735143-74735144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542861108	chr1:74735145-74735146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557251181	chr1:74735168-74735169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74671400-74751800	Weak transcription	Ovary	ovary
2	chr1:74717000-74751800	Weak transcription	Aorta	Aorta
3	chr1:74719600-74753800	Weak transcription	Right Ventricle	heart
4	chr1:74724200-74746400	Weak transcription	Left Ventricle	heart
5	chr1:74731800-74735200	Enhancers	Fetal Heart	heart
6	chr1:74731800-74743800	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:74733200-74735400	Enhancers	Fetal Intestine Large	intestine
8	chr1:74734000-74734600	Enhancers	Fetal Stomach	stomach
9	chr1:74735200-74742200	Weak transcription	Fetal Heart	heart
10	chr1:74735800-74751400	Weak transcription	Psoas Muscle	Psoas
11	chr1:74736600-74740400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:74736800-74751600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:74742200-74743200	Enhancers	Fetal Heart	heart
14	chr1:74743200-74746400	Weak transcription	Fetal Heart	heart
15	chr1:74746400-74746800	Genic enhancers	Left Ventricle	heart
16	chr1:74746400-74747400	Enhancers	Fetal Heart	heart
17	chr1:74746800-74748400	Strong transcription	Left Ventricle	heart
18	chr1:74747400-74747800	Weak transcription	Fetal Heart	heart
19	chr1:74747600-74752000	Weak transcription	Gastric	stomach
20	chr1:74747800-74748000	Enhancers	Fetal Heart	heart
21	chr1:74748000-74769200	Weak transcription	Fetal Heart	heart
22	chr1:74748400-74751800	Weak transcription	Left Ventricle	heart
23	chr1:74750800-74751200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:74751800-74752200	ZNF genes & repeats	Aorta	Aorta
25	chr1:74751800-74752600	ZNF genes & repeats	Left Ventricle	heart
26	chr1:74751800-74752600	ZNF genes & repeats	Ovary	ovary
27	chr1:74752000-74752200	ZNF genes & repeats	Gastric	stomach
28	chr1:74752600-74753200	Weak transcription	Left Ventricle	heart
29	chr1:74764000-74771000	Weak transcription	Left Ventricle	heart
30	chr1:74766000-74771000	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:74768000-74768800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:74768000-74769200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:74768200-74768600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:74769200-74769400	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr1:74769200-74773200	Strong transcription	Fetal Heart	heart
36	chr1:74769400-74771000	Weak transcription	Adipose Nuclei	Adipose
37	chr1:74769400-74772000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:74771000-74771400	Enhancers	Adipose Nuclei	Adipose
39	chr1:74771000-74771400	Enhancers	Left Ventricle	heart
40	chr1:74771400-74778600	Weak transcription	Left Ventricle	heart
41	chr1:74773200-74776800	Weak transcription	Fetal Heart	heart
42	chr1:74776800-74779400	Enhancers	Fetal Heart	heart
43	chr1:74777200-74777600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:74777600-74781800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:74778600-74779400	Enhancers	Left Ventricle	heart
46	chr1:74778600-74779400	Enhancers	Right Atrium	heart
47	chr1:74778800-74779200	Enhancers	Brain Germinal Matrix	brain
48	chr1:74779400-74781400	Weak transcription	Fetal Heart	heart
49	chr1:74779400-74784800	Weak transcription	Left Ventricle	heart
50	chr1:74779400-74784800	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links