Variant report

Variant	nsv522576
Chromosome Location	chr2:184797402-184826437
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	chr2:184816387-184816712	A549	lung:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
2	CEBPB	chr2:184799701-184799979	H1-hESC	embryonic stem cell:	n/a	chr2:184799823-184799834
3	CEBPB	chr2:184816397-184816637	K562	blood:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
4	CEBPB	chr2:184816357-184816719	ECC-1	luminal epithelium:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
5	CEBPB	chr2:184826123-184826532	HepG2	liver:	n/a	chr2:184826184-184826201
6	CEBPB	chr2:184799803-184799883	K562	blood:	n/a	chr2:184799823-184799834
7	CEBPB	chr2:184816207-184816835	MCF-7	breast:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
8	CEBPB	chr2:184816162-184816899	Hela-S3	cervix:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
9	CEBPB	chr2:184816373-184816719	IMR90	lung:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
10	CEBPB	chr2:184816313-184816651	ECC-1	luminal epithelium:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
11	CEBPB	chr2:184799654-184799923	ECC-1	luminal epithelium:	n/a	chr2:184799823-184799834
12	CEBPB	chr2:184816300-184816839	MCF-7	breast:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
13	CEBPB	chr2:184799671-184799996	A549	lung:	n/a	chr2:184799823-184799834
14	CEBPB	chr2:184816327-184816729	A549	lung:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
15	CEBPB	chr2:184816355-184816727	HepG2	liver:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
16	CEBPB	chr2:184816389-184816686	H1-hESC	embryonic stem cell:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
17	CEBPB	chr2:184799659-184800009	HepG2	liver:	n/a	chr2:184799823-184799834
18	CEBPB	chr2:184816251-184816771	A549	lung:	n/a	chr2:184816529-184816538 chr2:184816527-184816540 chr2:184816529-184816538 chr2:184816529-184816538
19	CEBPB	chr2:184799659-184799995	IMR90	lung:	n/a	chr2:184799823-184799834
20	CTCF	chr2:184822600-184822750	GM12871	blood:	n/a	n/a
21	CTCF	chr2:184802120-184802270	GM12870	blood:	n/a	n/a
22	CTCF	chr2:184815160-184815310	K562	blood:	n/a	n/a
23	E2F4	chr2:184799111-184799264	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr2:184816284-184816578	MCF10A-Er-Src	breast:	n/a	n/a
25	EP300	chr2:184814661-184815998	SK-N-SH	brain:	n/a	n/a
26	EP300	chr2:184815408-184815658	SK-N-SH_RA	brain:	n/a	n/a
27	FOS	chr2:184816345-184816745	MCF10A-Er-Src	breast:	n/a	chr2:184816674-184816684 chr2:184816674-184816684
28	FOS	chr2:184799686-184800217	MCF10A-Er-Src	breast:	n/a	chr2:184800063-184800075
29	FOS	chr2:184816374-184816723	MCF10A-Er-Src	breast:	n/a	chr2:184816674-184816684 chr2:184816674-184816684
30	FOS	chr2:184816362-184816769	MCF10A-Er-Src	breast:	n/a	chr2:184816674-184816684 chr2:184816674-184816684
31	FOS	chr2:184799670-184800217	MCF10A-Er-Src	breast:	n/a	chr2:184800063-184800075
32	FOS	chr2:184799641-184800437	MCF10A-Er-Src	breast:	n/a	chr2:184800063-184800075
33	FOS	chr2:184816362-184816764	MCF10A-Er-Src	breast:	n/a	chr2:184816674-184816684 chr2:184816674-184816684
34	FOS	chr2:184799678-184800213	MCF10A-Er-Src	breast:	n/a	chr2:184800063-184800075
35	FOS	chr2:184826129-184826523	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr2:184815472-184815688	MCF10A-Er-Src	breast:	n/a	n/a
37	FOXP2	chr2:184815421-184815704	SK-N-MC	brain:	n/a	n/a
38	GATA2	chr2:184808963-184809175	SH-SY5Y	brain:	n/a	n/a
39	GATA2	chr2:184815306-184815685	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr2:184816351-184816655	MCF-7	breast:	n/a	chr2:184816591-184816601
41	GATA3	chr2:184816149-184816791	MCF-7	breast:	n/a	chr2:184816591-184816601
42	GATA3	chr2:184816230-184816852	MCF-7	breast:	n/a	chr2:184816591-184816601
43	GATA3	chr2:184816220-184816886	MCF-7	breast:	n/a	chr2:184816591-184816601
44	JUN	chr2:184824968-184825028	K562	blood:	n/a	n/a
45	JUND	chr2:184799773-184799978	HepG2	liver:	n/a	n/a
46	KAP1	chr2:184803642-184803894	K562	blood:	n/a	n/a
47	MAFK	chr2:184811860-184811883	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAFK	chr2:184799675-184799843	HepG2	liver:	n/a	chr2:184799758-184799773
49	MAFK	chr2:184799630-184799935	HepG2	liver:	n/a	chr2:184799758-184799773
50	MYC	chr2:184821110-184821113	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF804A-2	chr2:184799099-184799228	NONHSAT075946
2	lnc-ZNF804A-2	chr2:184799100-184799228	XLOC_001779
3	lnc-ZNF804A-2	chr2:184813599-184813839	XLOC_001779
4	lnc-ZNF804A-2	chr2:184813598-184813839	NONHSAT075946

Variant related genes	Relation type
ENSG00000238306	TF binding region

Extended variants
information (count: 626 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12473634	chr2:184797402-184797403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372882264	chr2:184797418-184797419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140170570	chr2:184797477-184797478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187534933	chr2:184797478-184797479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552580026	chr2:184797505-184797506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569111965	chr2:184797536-184797537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76854640	chr2:184797545-184797546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554872438	chr2:184797621-184797622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114814654	chr2:184797629-184797630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534005425	chr2:184797666-184797667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553670931	chr2:184797675-184797676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573024899	chr2:184797707-184797708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192062686	chr2:184797767-184797768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544325594	chr2:184797797-184797798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1817567	chr2:184797826-184797827	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs76033904	chr2:184797837-184797838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187682244	chr2:184797839-184797840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148025687	chr2:184797840-184797841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201015511	chr2:184797841-184797842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113957689	chr2:184797843-184797844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561215431	chr2:184797904-184797905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530305844	chr2:184797938-184797939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1351908	chr2:184797946-184797947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs76466769	chr2:184797981-184797982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532644195	chr2:184798034-184798035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560497412	chr2:184798050-184798051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527968242	chr2:184798101-184798102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552351055	chr2:184798125-184798126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373864839	chr2:184798199-184798200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77196775	chr2:184798204-184798205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563854627	chr2:184798253-184798254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184282614	chr2:184798342-184798343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79667833	chr2:184798374-184798375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534073500	chr2:184798429-184798430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553981747	chr2:184798464-184798465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115131970	chr2:184798466-184798467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539526771	chr2:184798504-184798505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77165774	chr2:184798550-184798551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567154032	chr2:184798568-184798569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144240639	chr2:184798572-184798573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16825231	chr2:184798593-184798594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571346242	chr2:184798613-184798614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574833441	chr2:184798619-184798620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147356499	chr2:184798678-184798679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560748656	chr2:184798681-184798682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs826147	chr2:184798699-184798700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559514906	chr2:184798718-184798719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546301664	chr2:184798786-184798787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562998470	chr2:184798810-184798811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34218658	chr2:184798815-184798816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184793000-184809000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:184800200-184800400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:184800400-184802000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:184802000-184802600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:184809000-184809200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:184813200-184816000	Enhancers	Fetal Lung	lung
7	chr2:184814000-184814400	Enhancers	Brain Germinal Matrix	brain
8	chr2:184814400-184814800	Weak transcription	Brain Germinal Matrix	brain
9	chr2:184814600-184816000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:184814800-184816000	Enhancers	Brain Germinal Matrix	brain
11	chr2:184814800-184816200	Enhancers	Fetal Muscle Leg	muscle
12	chr2:184815000-184816000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:184815000-184816400	Enhancers	Fetal Stomach	stomach
14	chr2:184815200-184815600	Enhancers	Stomach Smooth Muscle	stomach
15	chr2:184815400-184816200	Enhancers	Esophagus	oesophagus
16	chr2:184815400-184817000	Enhancers	Hela-S3	cervix
17	chr2:184816000-184816400	Weak transcription	Fetal Lung	lung
18	chr2:184816400-184817000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:184816400-184817800	Enhancers	Fetal Lung	lung

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