Variant report

Variant	nsv898900
Chromosome Location	chr12:22044843-22083212
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	chr12:22047836-22047955	HepG2	liver:	n/a	chr12:22047875-22047886 chr12:22047874-22047887
2	CEBPB	chr12:22045722-22046065	A549	lung:	n/a	chr12:22045894-22045905
3	CEBPB	chr12:22064939-22065123	H1-hESC	embryonic stem cell:	n/a	chr12:22065069-22065080
4	CEBPB	chr12:22064865-22065268	K562	blood:	n/a	chr12:22065069-22065080
5	CEBPB	chr12:22064922-22065195	HepG2	liver:	n/a	chr12:22065069-22065080
6	CEBPB	chr12:22064894-22065168	K562	blood:	n/a	chr12:22065069-22065080
7	CEBPB	chr12:22045711-22046062	K562	blood:	n/a	chr12:22045894-22045905
8	CEBPB	chr12:22045760-22046074	H1-hESC	embryonic stem cell:	n/a	chr12:22045894-22045905
9	CEBPB	chr12:22045726-22046083	IMR90	lung:	n/a	chr12:22045894-22045905
10	CEBPB	chr12:22045721-22046065	HepG2	liver:	n/a	chr12:22045894-22045905
11	CEBPB	chr12:22073853-22074012	IMR90	lung:	n/a	n/a
12	CEBPB	chr12:22064893-22065547	IMR90	lung:	n/a	chr12:22065069-22065080
13	CEBPB	chr12:22045714-22046097	A549	lung:	n/a	chr12:22045894-22045905
14	CTCF	chr12:22053063-22053126	GM13976	blood:	n/a	n/a
15	CTCF	chr12:22060163-22060363	GM12878	blood:	n/a	n/a
16	E2F4	chr12:22065284-22065500	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr12:22047055-22047130	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr12:22059811-22059995	GM12878	blood:	n/a	n/a
19	ESR1	chr12:22058724-22059057	T-47D	breast:	n/a	n/a
20	ESR1	chr12:22058691-22059092	T-47D	breast:	n/a	n/a
21	ESR1	chr12:22058665-22059069	T-47D	breast:	n/a	n/a
22	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
23	FOS	chr12:22065023-22065708	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
24	FOS	chr12:22066134-22066537	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr12:22066180-22066590	MCF10A-Er-Src	breast:	n/a	n/a
26	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
27	FOS	chr12:22047844-22048205	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr12:22064849-22065717	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
29	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
30	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
31	FOS	chr12:22065211-22065643	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
32	FOS	chr12:22065198-22065626	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
33	FOXA1	chr12:22047780-22047950	T-47D	breast:	n/a	n/a
34	GATA2	chr12:22078544-22078835	K562	blood:	n/a	n/a
35	GATA3	chr12:22047710-22047995	T-47D	breast:	n/a	n/a
36	GATA3	chr12:22050269-22050727	MCF-7	breast:	n/a	n/a
37	GATA3	chr12:22081712-22081827	SH-SY5Y	brain:	n/a	n/a
38	MAFF	chr12:22047851-22047862	HepG2	liver:	n/a	n/a
39	MAFK	chr12:22047853-22047912	HepG2	liver:	n/a	n/a
40	MAFK	chr12:22047863-22047911	HepG2	liver:	n/a	n/a
41	MAX	chr12:22058792-22059059	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr12:22058784-22059044	NB4	blood:	n/a	n/a
43	MYC	chr12:22066818-22067207	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr12:22064978-22065608	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:22067312-22067410	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr12:22070329-22070385	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr12:22065371-22065433	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr12:22066236-22066569	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr12:22052366-22052398	A549	lung:	n/a	n/a
50	POLR2A	chr12:22048079-22048302	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:22061241..22063351-chr12:22065690..22068312,2	K562	blood:
2	chr12:22061241..22063260-chr12:22065386..22067190,2	K562	blood:
3	chr12:22077867..22080304-chr12:22090934..22093456,2	K562	blood:
4	chr12:22044149..22046273-chr12:22050074..22052072,2	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:
8	chr12:22044149..22046273-chr12:22050074..22052072,2	K562	blood:

Variant related genes	Relation type
ABCC9	TF binding region

Extended variants
information (count: 1468 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1468 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4148661	chr12:22044843-22044844	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553347518	chr12:22044950-22044951	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144222053	chr12:22044956-22044957	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs539149236	chr12:22044970-22044971	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs559077330	chr12:22044999-22045000	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs140747560	chr12:22045030-22045031	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143016564	chr12:22045046-22045047	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs704214	chr12:22045154-22045155	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185358367	chr12:22045170-22045171	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543304071	chr12:22045180-22045181	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559738987	chr12:22045200-22045201	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370352235	chr12:22045273-22045274	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372801186	chr12:22045338-22045339	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374642183	chr12:22045358-22045359	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs540537106	chr12:22045375-22045376	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs560116338	chr12:22045427-22045428	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536691758	chr12:22045487-22045488	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188224405	chr12:22045506-22045507	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562239525	chr12:22045527-22045528	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147471516	chr12:22045544-22045545	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139989641	chr12:22045568-22045569	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561698604	chr12:22045596-22045597	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368161179	chr12:22045612-22045613	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs142918734	chr12:22045616-22045617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566890566	chr12:22045620-22045621	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs151102318	chr12:22045657-22045658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs139966260	chr12:22045664-22045665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs180787515	chr12:22045673-22045674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs377225046	chr12:22045723-22045724	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2292772	chr12:22045771-22045772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs555220293	chr12:22045777-22045778	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs2292771	chr12:22045799-22045800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1914361	chr12:22045853-22045854	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs554154960	chr12:22045894-22045895	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187596580	chr12:22045900-22045901	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545397323	chr12:22045901-22045902	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs561727394	chr12:22045916-22045917	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs372597923	chr12:22045984-22045985	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191963747	chr12:22046026-22046027	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs183883456	chr12:22046038-22046039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs704215	chr12:22046058-22046059	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149861614	chr12:22046061-22046062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs146883496	chr12:22046077-22046078	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs61921493	chr12:22046087-22046088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568805966	chr12:22046095-22046096	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs112895088	chr12:22046117-22046118	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs112939200	chr12:22046128-22046129	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs34032811	chr12:22046129-22046130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs3062612	chr12:22046130-22046131	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs150659707	chr12:22046131-22046132	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:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22027600-22046200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:22041600-22050600	Weak transcription	Fetal Lung	lung
5	chr12:22044000-22045200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr12:22044000-22045600	Enhancers	Fetal Stomach	stomach
7	chr12:22044000-22045800	Flanking Active TSS	Liver	Liver
8	chr12:22044000-22047200	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:22044400-22045600	Enhancers	Ovary	ovary
10	chr12:22044400-22046000	Enhancers	Adipose Nuclei	Adipose
11	chr12:22044400-22046000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr12:22044400-22048400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr12:22044600-22045000	Genic enhancers	Left Ventricle	heart
14	chr12:22044600-22045400	Active TSS	Stomach Smooth Muscle	stomach
15	chr12:22044600-22045600	Enhancers	Fetal Heart	heart
16	chr12:22044600-22045800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:22044800-22045000	Enhancers	Aorta	Aorta
18	chr12:22044800-22045000	Enhancers	Psoas Muscle	Psoas
19	chr12:22044800-22045000	Flanking Active TSS	Right Atrium	heart
20	chr12:22044800-22045000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr12:22044800-22045200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:22044800-22045200	Enhancers	Right Ventricle	heart
23	chr12:22044800-22045400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr12:22044800-22045600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:22044800-22045600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:22044800-22049400	Enhancers	Colon Smooth Muscle	Colon
27	chr12:22045000-22045400	Weak transcription	Aorta	Aorta
28	chr12:22045000-22045400	Weak transcription	Psoas Muscle	Psoas
29	chr12:22045000-22045400	Active TSS	Right Atrium	heart
30	chr12:22045000-22045600	Enhancers	Brain Anterior Caudate	brain
31	chr12:22045000-22046800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr12:22045000-22059200	Weak transcription	Left Ventricle	heart
33	chr12:22045200-22047800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:22045200-22053800	Weak transcription	Right Ventricle	heart
35	chr12:22045200-22058800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:22045400-22045600	Enhancers	Aorta	Aorta
37	chr12:22045400-22045600	Enhancers	Psoas Muscle	Psoas
38	chr12:22045400-22045600	Flanking Active TSS	Right Atrium	heart
39	chr12:22045400-22045600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr12:22045400-22045600	Enhancers	NHLF	lung
41	chr12:22045400-22064800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:22045600-22046600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:22045600-22047000	Weak transcription	Psoas Muscle	Psoas
44	chr12:22045600-22047800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:22045600-22047800	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:22045600-22049200	Weak transcription	Fetal Stomach	stomach
47	chr12:22045600-22053000	Weak transcription	Aorta	Aorta
48	chr12:22045600-22059200	Weak transcription	NHLF	lung
49	chr12:22045600-22064800	Weak transcription	Fetal Heart	heart
50	chr12:22045800-22046000	Active TSS	Liver	Liver

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