Variant report

Variant	nsv546575
Chromosome Location	chr1:74743034-74821837
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	chr1:74764993-74765325	A549	lung:	n/a	chr1:74765155-74765166 chr1:74765142-74765150
3	CEBPB	chr1:74777395-74777659	HepG2	liver:	n/a	chr1:74777540-74777553 chr1:74777541-74777552
4	CEBPB	chr1:74764987-74765324	HepG2	liver:	n/a	chr1:74765155-74765166 chr1:74765142-74765150
5	CEBPB	chr1:74808826-74809251	IMR90	lung:	n/a	chr1:74808957-74808968
6	CEBPB	chr1:74780245-74780491	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr1:74771504-74771688	HepG2	liver:	n/a	chr1:74771612-74771623
8	CEBPB	chr1:74780146-74780463	IMR90	lung:	n/a	n/a
9	CEBPB	chr1:74808794-74809122	HepG2	liver:	n/a	chr1:74808957-74808968
10	CEBPB	chr1:74783362-74783693	HepG2	liver:	n/a	n/a
11	CEBPB	chr1:74783464-74783590	HepG2	liver:	n/a	n/a
12	CEBPB	chr1:74808794-74809117	H1-hESC	embryonic stem cell:	n/a	chr1:74808957-74808968
13	CEBPB	chr1:74768320-74768669	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPZ	chr1:74790846-74791124	HepG2	liver:	n/a	n/a
15	CTCF	chr1:74779180-74779330	HAc	cerebellar:	n/a	n/a
16	CTCF	chr1:74790800-74790950	HepG2	liver:	n/a	n/a
17	CTCF	chr1:74817580-74817676	LNCaP	prostate:	n/a	n/a
18	CTCF	chr1:74761842-74761913	Fibrobl	skin:	n/a	n/a
19	CTCF	chr1:74807840-74807990	GM12868	blood:	n/a	n/a
20	CTCF	chr1:74802103-74802213	Pancreas_OC	pancreas:	n/a	n/a
21	E2F4	chr1:74791612-74791689	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr1:74759287-74759597	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr1:74776700-74776900	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F6	chr1:74781759-74782401	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F6	chr1:74782034-74782339	H1-hESC	embryonic stem cell:	n/a	n/a
26	EBF1	chr1:74762695-74763155	GM12878	blood:	n/a	chr1:74763014-74763025
27	EBF1	chr1:74742981-74743181	GM12878	blood:	n/a	chr1:74743034-74743045 chr1:74743035-74743045 chr1:74743036-74743045 chr1:74743034-74743047
28	ELK1	chr1:74801052-74801061	Hela-S3	cervix:	n/a	n/a
29	EP300	chr1:74808885-74809399	SK-N-SH_RA	brain:	n/a	chr1:74808954-74808968
30	EP300	chr1:74810115-74810398	SK-N-SH_RA	brain:	n/a	n/a
31	EP300	chr1:74807269-74810744	SK-N-SH	brain:	n/a	chr1:74809475-74809489 chr1:74809488-74809502 chr1:74809483-74809497 chr1:74808954-74808968
32	EP300	chr1:74811735-74812661	SK-N-SH	brain:	n/a	chr1:74812280-74812290
33	EP300	chr1:74751713-74751762	GM12878	blood:	n/a	n/a
34	EP300	chr1:74808963-74809348	SK-N-SH_RA	brain:	n/a	n/a
35	FOS	chr1:74783431-74783704	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr1:74783403-74783707	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:74783430-74783695	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr1:74783494-74783660	MCF10A-Er-Src	breast:	n/a	n/a
39	FOSL2	chr1:74783296-74783660	HepG2	liver:	n/a	n/a
40	FOSL2	chr1:74783420-74783647	HepG2	liver:	n/a	n/a
41	FOXA1	chr1:74790592-74791040	HepG2	liver:	n/a	n/a
42	FOXA1	chr1:74790647-74791083	HepG2	liver:	n/a	n/a
43	FOXA1	chr1:74790636-74791070	HepG2	liver:	n/a	n/a
44	FOXA1	chr1:74818165-74818470	HepG2	liver:	n/a	n/a
45	FOXA1	chr1:74790521-74791041	HepG2	liver:	n/a	n/a
46	FOXA2	chr1:74790509-74790955	A549	lung:	n/a	n/a
47	FOXA2	chr1:74789666-74790086	A549	lung:	n/a	n/a
48	FOXA2	chr1:74818214-74818374	HepG2	liver:	n/a	n/a
49	FOXA2	chr1:74821788-74822700	HepG2	liver:	n/a	chr1:74822332-74822344
50	FOXA2	chr1:74818094-74818621	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:74789903..74792042-chr1:74796412..74799113,2	MCF-7	breast:
2	chr1:74701198..74703916-chr1:74780316..74782785,2	K562	blood:
3	chr1:74622416..74625063-chr1:74764779..74767346,2	K562	blood:
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: 2917 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2917 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs473834	chr1:74743034-74743035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568864880	chr1:74743046-74743047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189119220	chr1:74743075-74743076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554867031	chr1:74743090-74743091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181068666	chr1:74743095-74743096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186402720	chr1:74743117-74743118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146187051	chr1:74743121-74743122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139394115	chr1:74743122-74743123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544325706	chr1:74743125-74743126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55968379	chr1:74743149-74743150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574790046	chr1:74743150-74743151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542128616	chr1:74743163-74743164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141803142	chr1:74743164-74743165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190861533	chr1:74743294-74743295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546409334	chr1:74743306-74743307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557243547	chr1:74743357-74743358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532223871	chr1:74743372-74743373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548952654	chr1:74743392-74743393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142431865	chr1:74743417-74743418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550833950	chr1:74743478-74743479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181925680	chr1:74743504-74743505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568727374	chr1:74743516-74743517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76347195	chr1:74743517-74743518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548139166	chr1:74743581-74743582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566770191	chr1:74743624-74743625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533878336	chr1:74743626-74743627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558305744	chr1:74743700-74743701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs480267	chr1:74743724-74743725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564501228	chr1:74743753-74743754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573271519	chr1:74743754-74743755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537911922	chr1:74743780-74743781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548088767	chr1:74743789-74743790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113361313	chr1:74743821-74743822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs33986771	chr1:74743822-74743823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58800300	chr1:74743824-74743825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113727754	chr1:74743825-74743826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150561540	chr1:74743910-74743911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185978290	chr1:74743913-74743914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139591374	chr1:74743941-74743942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191933618	chr1:74743983-74743984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546548261	chr1:74744069-74744070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115748685	chr1:74744079-74744080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531958784	chr1:74744198-74744199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561976083	chr1:74744222-74744223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543945753	chr1:74744223-74744224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149722355	chr1:74744272-74744273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529620384	chr1:74744281-74744282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182919791	chr1:74744321-74744322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188373424	chr1:74744357-74744358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571195779	chr1:74744395-74744396	Weak transcription	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:173 , 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	chr1:74731800-74743800	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:74735800-74751400	Weak transcription	Psoas Muscle	Psoas
7	chr1:74736800-74751600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:74742200-74743200	Enhancers	Fetal Heart	heart
9	chr1:74743200-74746400	Weak transcription	Fetal Heart	heart
10	chr1:74746400-74746800	Genic enhancers	Left Ventricle	heart
11	chr1:74746400-74747400	Enhancers	Fetal Heart	heart
12	chr1:74746800-74748400	Strong transcription	Left Ventricle	heart
13	chr1:74747400-74747800	Weak transcription	Fetal Heart	heart
14	chr1:74747600-74752000	Weak transcription	Gastric	stomach
15	chr1:74747800-74748000	Enhancers	Fetal Heart	heart
16	chr1:74748000-74769200	Weak transcription	Fetal Heart	heart
17	chr1:74748400-74751800	Weak transcription	Left Ventricle	heart
18	chr1:74750800-74751200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:74751800-74752200	ZNF genes & repeats	Aorta	Aorta
20	chr1:74751800-74752600	ZNF genes & repeats	Left Ventricle	heart
21	chr1:74751800-74752600	ZNF genes & repeats	Ovary	ovary
22	chr1:74752000-74752200	ZNF genes & repeats	Gastric	stomach
23	chr1:74752600-74753200	Weak transcription	Left Ventricle	heart
24	chr1:74764000-74771000	Weak transcription	Left Ventricle	heart
25	chr1:74766000-74771000	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:74768000-74768800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:74768000-74769200	Weak transcription	Adipose Nuclei	Adipose
28	chr1:74768200-74768600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:74769200-74769400	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr1:74769200-74773200	Strong transcription	Fetal Heart	heart
31	chr1:74769400-74771000	Weak transcription	Adipose Nuclei	Adipose
32	chr1:74769400-74772000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:74771000-74771400	Enhancers	Adipose Nuclei	Adipose
34	chr1:74771000-74771400	Enhancers	Left Ventricle	heart
35	chr1:74771400-74778600	Weak transcription	Left Ventricle	heart
36	chr1:74773200-74776800	Weak transcription	Fetal Heart	heart
37	chr1:74776800-74779400	Enhancers	Fetal Heart	heart
38	chr1:74777200-74777600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:74777600-74781800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:74778600-74779400	Enhancers	Left Ventricle	heart
41	chr1:74778600-74779400	Enhancers	Right Atrium	heart
42	chr1:74778800-74779200	Enhancers	Brain Germinal Matrix	brain
43	chr1:74779400-74781400	Weak transcription	Fetal Heart	heart
44	chr1:74779400-74784800	Weak transcription	Left Ventricle	heart
45	chr1:74779400-74784800	Weak transcription	Right Atrium	heart
46	chr1:74781400-74781600	Enhancers	Fetal Heart	heart
47	chr1:74781400-74783000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:74781600-74782000	Weak transcription	Fetal Heart	heart
49	chr1:74781800-74782200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:74781800-74782200	Enhancers	HUES48 Cell Line	embryonic stem cell

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