Variant report

Variant	nsv898902
Chromosome Location	chr12:22047174-22083212
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	chr12:22064865-22065268	K562	blood:	n/a	chr12:22065069-22065080
2	CEBPB	chr12:22064894-22065168	K562	blood:	n/a	chr12:22065069-22065080
3	CEBPB	chr12:22064922-22065195	HepG2	liver:	n/a	chr12:22065069-22065080
4	CEBPB	chr12:22047836-22047955	HepG2	liver:	n/a	chr12:22047875-22047886 chr12:22047874-22047887
5	CEBPB	chr12:22064939-22065123	H1-hESC	embryonic stem cell:	n/a	chr12:22065069-22065080
6	CEBPB	chr12:22064893-22065547	IMR90	lung:	n/a	chr12:22065069-22065080
7	CEBPB	chr12:22073853-22074012	IMR90	lung:	n/a	n/a
8	CTCF	chr12:22053063-22053126	GM13976	blood:	n/a	n/a
9	CTCF	chr12:22060163-22060363	GM12878	blood:	n/a	n/a
10	E2F4	chr12:22065284-22065500	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr12:22059811-22059995	GM12878	blood:	n/a	n/a
12	ESR1	chr12:22058665-22059069	T-47D	breast:	n/a	n/a
13	ESR1	chr12:22058724-22059057	T-47D	breast:	n/a	n/a
14	ESR1	chr12:22058691-22059092	T-47D	breast:	n/a	n/a
15	FOS	chr12:22066810-22067211	MCF10A-Er-Src	breast:	n/a	chr12:22066991-22067001 chr12:22066992-22067000 chr12:22066992-22066999 chr12:22066991-22067001 chr12:22066992-22067000
16	FOS	chr12:22065211-22065643	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
17	FOS	chr12:22066188-22067356	MCF10A-Er-Src	breast:	n/a	chr12:22066991-22067001 chr12:22066992-22067000 chr12:22066992-22066999 chr12:22066991-22067001 chr12:22066992-22067000
18	FOS	chr12:22066801-22067309	MCF10A-Er-Src	breast:	n/a	chr12:22066991-22067001 chr12:22066992-22067000 chr12:22066992-22066999 chr12:22066991-22067001 chr12:22066992-22067000
19	FOS	chr12:22064849-22065717	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
20	FOS	chr12:22066813-22067168	MCF10A-Er-Src	breast:	n/a	chr12:22066991-22067001 chr12:22066992-22067000 chr12:22066992-22066999 chr12:22066991-22067001 chr12:22066992-22067000
21	FOS	chr12:22066134-22066537	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr12:22065023-22065708	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
23	FOS	chr12:22047844-22048205	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr12:22065198-22065626	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
25	FOS	chr12:22066180-22066590	MCF10A-Er-Src	breast:	n/a	n/a
26	FOXA1	chr12:22047780-22047950	T-47D	breast:	n/a	n/a
27	GATA2	chr12:22078544-22078835	K562	blood:	n/a	n/a
28	GATA3	chr12:22047710-22047995	T-47D	breast:	n/a	n/a
29	GATA3	chr12:22050269-22050727	MCF-7	breast:	n/a	n/a
30	GATA3	chr12:22081712-22081827	SH-SY5Y	brain:	n/a	n/a
31	MAFF	chr12:22047851-22047862	HepG2	liver:	n/a	n/a
32	MAFK	chr12:22047863-22047911	HepG2	liver:	n/a	n/a
33	MAFK	chr12:22047853-22047912	HepG2	liver:	n/a	n/a
34	MAX	chr12:22058784-22059044	NB4	blood:	n/a	n/a
35	MAX	chr12:22058792-22059059	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr12:22066818-22067207	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr12:22064978-22065608	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr12:22048066-22048228	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr12:22052410-22052446	A549	lung:	n/a	n/a
40	POLR2A	chr12:22052366-22052398	A549	lung:	n/a	n/a
41	POLR2A	chr12:22059036-22059055	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr12:22064940-22065079	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr12:22066236-22066569	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr12:22067613-22067793	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:22049515-22049527	A549	lung:	n/a	n/a
46	POLR2A	chr12:22082248-22082273	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr12:22070329-22070385	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr12:22067312-22067410	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr12:22077916-22077986	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr12:22065371-22065433	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:22077867..22080304-chr12:22090934..22093456,2	K562	blood:
2	chr12:22061241..22063260-chr12:22065386..22067190,2	K562	blood:
3	chr12:22044149..22046273-chr12:22050074..22052072,2	K562	blood:
4	chr12:22061241..22063351-chr12:22065690..22068312,2	K562	blood:
5	chr12:22061241..22063260-chr12:22065386..22067190,2	K562	blood:
6	chr12:22061241..22063351-chr12:22065690..22068312,2	K562	blood:
7	chr12:22041351..22043151-chr12:22046321..22048748,2	MCF-7	breast:

Variant related genes	Relation type
ABCC9	TF binding region

Extended variants
information (count: 1388 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1388 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs704217	chr12:22047174-22047175	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533283306	chr12:22047194-22047195	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114613035	chr12:22047262-22047263	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562898238	chr12:22047286-22047287	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564618740	chr12:22047317-22047318	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531723326	chr12:22047335-22047336	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548705180	chr12:22047341-22047342	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369193813	chr12:22047348-22047349	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191535951	chr12:22047371-22047372	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113837656	chr12:22047384-22047385	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570683236	chr12:22047394-22047395	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539771546	chr12:22047416-22047417	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373354276	chr12:22047418-22047419	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7978092	chr12:22047455-22047456	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs77735014	chr12:22047475-22047476	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372796760	chr12:22047476-22047477	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573784066	chr12:22047480-22047481	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34181244	chr12:22047549-22047550	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182557819	chr12:22047570-22047571	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569349606	chr12:22047593-22047594	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189222773	chr12:22047605-22047606	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555295425	chr12:22047629-22047630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369474017	chr12:22047667-22047668	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs115427410	chr12:22047677-22047678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs370263008	chr12:22047683-22047684	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs148254017	chr12:22047694-22047695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs74067850	chr12:22047708-22047709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141331238	chr12:22047722-22047723	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs193107916	chr12:22047773-22047774	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373428857	chr12:22047825-22047826	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562078303	chr12:22047833-22047834	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185505762	chr12:22047838-22047839	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545812685	chr12:22047865-22047866	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs556101855	chr12:22047872-22047873	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs147000787	chr12:22048025-22048026	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs541019183	chr12:22048071-22048072	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs138216988	chr12:22048169-22048170	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs377657093	chr12:22048172-22048173	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs371030604	chr12:22048175-22048176	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs374047364	chr12:22048179-22048180	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs377221797	chr12:22048184-22048185	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201753781	chr12:22048199-22048200	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs370463895	chr12:22048230-22048231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs142958789	chr12:22048271-22048272	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs367733410	chr12:22048293-22048294	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs367691037	chr12:22048295-22048296	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs34132126	chr12:22048300-22048301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550106803	chr12:22048319-22048320	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs570016298	chr12:22048323-22048324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536107355	chr12:22048371-22048372	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:22041600-22050600	Weak transcription	Fetal Lung	lung
4	chr12:22044000-22047200	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:22044400-22048400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:22044800-22049400	Enhancers	Colon Smooth Muscle	Colon
7	chr12:22045000-22059200	Weak transcription	Left Ventricle	heart
8	chr12:22045200-22047800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:22045200-22053800	Weak transcription	Right Ventricle	heart
10	chr12:22045200-22058800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:22045400-22064800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:22045600-22047800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:22045600-22047800	Enhancers	Stomach Smooth Muscle	stomach
14	chr12:22045600-22049200	Weak transcription	Fetal Stomach	stomach
15	chr12:22045600-22053000	Weak transcription	Aorta	Aorta
16	chr12:22045600-22059200	Weak transcription	NHLF	lung
17	chr12:22045600-22064800	Weak transcription	Fetal Heart	heart
18	chr12:22046000-22059000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:22046200-22047200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:22046600-22047600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:22046600-22047600	Weak transcription	Adipose Nuclei	Adipose
22	chr12:22046800-22047200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:22047000-22047800	Flanking Active TSS	Liver	Liver
24	chr12:22047000-22048000	Enhancers	Psoas Muscle	Psoas
25	chr12:22047200-22047600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:22047200-22058000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:22047200-22058400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:22047600-22047800	Enhancers	Adipose Nuclei	Adipose
29	chr12:22047600-22048200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:22047600-22048600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:22047600-22049000	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:22047800-22048200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:22047800-22048200	Weak transcription	Adipose Nuclei	Adipose
34	chr12:22047800-22048200	Active TSS	Liver	Liver
35	chr12:22047800-22048400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:22047800-22058400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:22048000-22049400	Enhancers	Fetal Kidney	kidney
38	chr12:22048000-22092000	Weak transcription	Psoas Muscle	Psoas
39	chr12:22048200-22048400	Enhancers	Adipose Nuclei	Adipose
40	chr12:22048200-22048400	Flanking Active TSS	Liver	Liver
41	chr12:22048200-22054600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:22048200-22058400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:22048400-22048600	Active TSS	Liver	Liver
44	chr12:22048400-22060000	Weak transcription	Adipose Nuclei	Adipose
45	chr12:22048400-22091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:22048600-22049000	Flanking Active TSS	Liver	Liver
47	chr12:22048600-22059200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:22049000-22049200	Enhancers	Liver	Liver
49	chr12:22049200-22049400	Enhancers	Fetal Stomach	stomach
50	chr12:22049200-22049600	Flanking Active TSS	Liver	Liver

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