Variant report

Variant	esv2763332
Chromosome Location	chr2:184789460-184815561
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	chr2:184790019-184790366	A549	lung:	n/a	chr2:184790196-184790207
2	CEBPB	chr2:184799671-184799996	A549	lung:	n/a	chr2:184799823-184799834
3	CEBPB	chr2:184799803-184799883	K562	blood:	n/a	chr2:184799823-184799834
4	CEBPB	chr2:184799659-184800009	HepG2	liver:	n/a	chr2:184799823-184799834
5	CEBPB	chr2:184799701-184799979	H1-hESC	embryonic stem cell:	n/a	chr2:184799823-184799834
6	CEBPB	chr2:184799654-184799923	ECC-1	luminal epithelium:	n/a	chr2:184799823-184799834
7	CEBPB	chr2:184790018-184790389	ECC-1	luminal epithelium:	n/a	chr2:184790196-184790207
8	CEBPB	chr2:184790019-184790403	MCF-7	breast:	n/a	chr2:184790196-184790207
9	CEBPB	chr2:184790019-184790389	HepG2	liver:	n/a	chr2:184790196-184790207
10	CEBPB	chr2:184790013-184790392	IMR90	lung:	n/a	chr2:184790196-184790207
11	CEBPB	chr2:184790011-184790389	A549	lung:	n/a	chr2:184790196-184790207
12	CEBPB	chr2:184790001-184790396	K562	blood:	n/a	chr2:184790196-184790207
13	CEBPB	chr2:184790013-184790337	ECC-1	luminal epithelium:	n/a	chr2:184790196-184790207
14	CEBPB	chr2:184790114-184790353	A549	lung:	n/a	chr2:184790196-184790207
15	CEBPB	chr2:184789961-184790387	MCF-7	breast:	n/a	chr2:184790196-184790207
16	CEBPB	chr2:184790037-184790383	Hela-S3	cervix:	n/a	chr2:184790196-184790207
17	CEBPB	chr2:184790011-184790441	H1-hESC	embryonic stem cell:	n/a	chr2:184790196-184790207
18	CEBPB	chr2:184799659-184799995	IMR90	lung:	n/a	chr2:184799823-184799834
19	CEBPB	chr2:184789918-184790471	HCT-116	colon:	n/a	chr2:184790196-184790207
20	CTCF	chr2:184802120-184802270	GM12870	blood:	n/a	n/a
21	CTCF	chr2:184792339-184792432	GM13976	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	EP300	chr2:184815408-184815658	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr2:184791081-184792077	SK-N-SH	brain:	n/a	n/a
26	EP300	chr2:184814661-184815998	SK-N-SH	brain:	n/a	n/a
27	FOS	chr2:184792774-184793066	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:184799686-184800217	MCF10A-Er-Src	breast:	n/a	chr2:184800063-184800075
29	FOS	chr2:184792761-184793072	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr2:184799641-184800437	MCF10A-Er-Src	breast:	n/a	chr2:184800063-184800075
31	FOS	chr2:184792731-184793072	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr2:184815472-184815688	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr2:184792679-184793072	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr2:184799670-184800217	MCF10A-Er-Src	breast:	n/a	chr2:184800063-184800075
35	FOS	chr2:184799678-184800213	MCF10A-Er-Src	breast:	n/a	chr2:184800063-184800075
36	FOSL2	chr2:184792669-184793046	SK-N-SH	brain:	n/a	n/a
37	FOXP2	chr2:184815421-184815704	SK-N-MC	brain:	n/a	n/a
38	GATA2	chr2:184791246-184791751	SH-SY5Y	brain:	n/a	n/a
39	GATA2	chr2:184808963-184809175	SH-SY5Y	brain:	n/a	n/a
40	GATA2	chr2:184815306-184815685	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr2:184791425-184791566	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr2:184791322-184791645	T-47D	breast:	n/a	n/a
43	JUND	chr2:184799773-184799978	HepG2	liver:	n/a	n/a
44	KAP1	chr2:184803642-184803894	K562	blood:	n/a	n/a
45	MAFK	chr2:184790450-184790472	HepG2	liver:	n/a	n/a
46	MAFK	chr2:184811860-184811883	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAFK	chr2:184799630-184799935	HepG2	liver:	n/a	chr2:184799758-184799773
48	MAFK	chr2:184799675-184799843	HepG2	liver:	n/a	chr2:184799758-184799773
49	MYC	chr2:184796335-184796531	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr2:184790135-184790286	H1-hESC	embryonic stem cell:	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: 732 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571659159	chr2:184791422-184791423	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540532182	chr2:184791448-184791449	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372798932	chr2:184791476-184791477	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181737933	chr2:184791477-184791478	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147946515	chr2:184791580-184791581	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs826120	chr2:184791585-184791586	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534664738	chr2:184791604-184791605	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562933863	chr2:184791634-184791635	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112064220	chr2:184791655-184791656	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187270392	chr2:184791659-184791660	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568475985	chr2:184791723-184791724	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190875422	chr2:184791769-184791770	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140340810	chr2:184791781-184791782	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182313413	chr2:184791850-184791851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144202568	chr2:184791865-184791866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556361837	chr2:184791866-184791867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574623016	chr2:184791873-184791874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375431070	chr2:184791876-184791877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199614397	chr2:184791878-184791879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373185281	chr2:184791884-184791885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543636420	chr2:184791960-184791961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576151043	chr2:184791998-184791999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186976623	chr2:184792047-184792048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555000847	chr2:184792068-184792069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58896937	chr2:184792090-184792091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147806118	chr2:184792106-184792107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs826119	chr2:184792134-184792135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563726037	chr2:184792144-184792145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577508878	chr2:184792175-184792176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189818315	chr2:184792218-184792219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183149764	chr2:184792244-184792245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531773473	chr2:184792292-184792293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548716849	chr2:184792336-184792337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs826118	chr2:184792340-184792341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115407170	chr2:184792346-184792347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74915172	chr2:184792355-184792356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570747442	chr2:184792398-184792399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140180644	chr2:184792419-184792420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549760207	chr2:184792470-184792471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569840945	chr2:184792482-184792483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202177839	chr2:184792491-184792492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200311953	chr2:184792492-184792493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201405235	chr2:184792493-184792494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199764580	chr2:184792494-184792495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370873688	chr2:184792495-184792496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35568758	chr2:184792499-184792500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34611115	chr2:184792501-184792502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535259438	chr2:184792525-184792526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188188120	chr2:184792569-184792570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192940254	chr2:184792652-184792653	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184791400-184791600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:184791400-184793200	Enhancers	Adipose Nuclei	Adipose
3	chr2:184791600-184791800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:184791800-184792200	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr2:184791800-184793000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:184792400-184792800	Enhancers	NH-A	brain
7	chr2:184792400-184793600	Enhancers	Fetal Lung	lung
8	chr2:184792600-184793000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:184792800-184793000	ZNF genes & repeats	Psoas Muscle	Psoas
10	chr2:184793000-184809000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:184794400-184795000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:184795800-184796000	Enhancers	Fetal Lung	lung
13	chr2:184800200-184800400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:184800400-184802000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:184802000-184802600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:184809000-184809200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:184813200-184816000	Enhancers	Fetal Lung	lung
18	chr2:184814000-184814400	Enhancers	Brain Germinal Matrix	brain
19	chr2:184814400-184814800	Weak transcription	Brain Germinal Matrix	brain
20	chr2:184814600-184816000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:184814800-184816000	Enhancers	Brain Germinal Matrix	brain
22	chr2:184814800-184816200	Enhancers	Fetal Muscle Leg	muscle
23	chr2:184815000-184816000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:184815000-184816400	Enhancers	Fetal Stomach	stomach
25	chr2:184815200-184815600	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:184815400-184816200	Enhancers	Esophagus	oesophagus
27	chr2:184815400-184817000	Enhancers	Hela-S3	cervix

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