Variant report

Variant	nsv557754
Chromosome Location	chr12:22051089-22072257
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	chr12:22064939-22065123	H1-hESC	embryonic stem cell:	n/a	chr12:22065069-22065080
5	CEBPB	chr12:22064893-22065547	IMR90	lung:	n/a	chr12:22065069-22065080
6	CTCF	chr12:22060163-22060363	GM12878	blood:	n/a	n/a
7	CTCF	chr12:22053063-22053126	GM13976	blood:	n/a	n/a
8	E2F4	chr12:22065284-22065500	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr12:22059811-22059995	GM12878	blood:	n/a	n/a
10	ESR1	chr12:22058691-22059092	T-47D	breast:	n/a	n/a
11	ESR1	chr12:22058665-22059069	T-47D	breast:	n/a	n/a
12	ESR1	chr12:22058724-22059057	T-47D	breast:	n/a	n/a
13	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
14	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
15	FOS	chr12:22065023-22065708	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
16	FOS	chr12:22065198-22065626	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
17	FOS	chr12:22066180-22066590	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr12:22065211-22065643	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
19	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
20	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
21	FOS	chr12:22066134-22066537	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr12:22064849-22065717	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
23	MAX	chr12:22058784-22059044	NB4	blood:	n/a	n/a
24	MAX	chr12:22058792-22059059	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr12:22066818-22067207	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr12:22064978-22065608	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr12:22067312-22067410	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:22067613-22067793	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr12:22052366-22052398	A549	lung:	n/a	n/a
30	POLR2A	chr12:22052410-22052446	A549	lung:	n/a	n/a
31	POLR2A	chr12:22066236-22066569	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr12:22069583-22069740	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr12:22059036-22059055	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr12:22070329-22070385	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr12:22064940-22065079	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr12:22065371-22065433	MCF10A-Er-Src	breast:	n/a	n/a
37	SPI1	chr12:22056337-22056463	K562	blood:	n/a	n/a
38	SPI1	chr12:22056294-22056480	K562	blood:	n/a	n/a
39	STAT3	chr12:22068739-22068773	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr12:22066135-22067406	MCF10A-Er-Src	breast:	n/a	chr12:22066752-22066759
41	STAT3	chr12:22066015-22067703	MCF10A-Er-Src	breast:	n/a	chr12:22066079-22066087 chr12:22066752-22066759
42	STAT3	chr12:22062383-22062588	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr12:22065383-22065611	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr12:22064850-22065765	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr12:22058988-22059058	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr12:22069882-22070008	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr12:22066016-22067689	MCF10A-Er-Src	breast:	n/a	chr12:22066079-22066087 chr12:22066752-22066759
48	STAT3	chr12:22066814-22067263	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr12:22064879-22065716	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr12:22064496-22064577	MCF10A-Er-Src	breast:	n/a	n/a

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

Variant related genes	Relation type
ABCC9	TF binding region

Extended variants
information (count: 882 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:882 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10743426	chr12:22051089-22051090	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565572541	chr12:22051163-22051164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367622002	chr12:22051177-22051178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145520508	chr12:22051182-22051183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28575116	chr12:22051224-22051225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28479872	chr12:22051233-22051234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10841907	chr12:22051296-22051297	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs190207095	chr12:22051312-22051313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529817038	chr12:22051328-22051329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148868884	chr12:22051386-22051387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183111745	chr12:22051393-22051394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532166674	chr12:22051438-22051439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1517277	chr12:22051467-22051468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556196964	chr12:22051554-22051555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537709685	chr12:22051559-22051560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34239030	chr12:22051565-22051566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575950622	chr12:22051666-22051667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567529630	chr12:22051679-22051680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535444217	chr12:22051699-22051700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187605662	chr12:22051704-22051705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555445146	chr12:22051735-22051736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553179114	chr12:22051813-22051814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146986454	chr12:22051814-22051815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539237904	chr12:22051823-22051824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559154011	chr12:22051836-22051837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576021726	chr12:22051840-22051841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544549671	chr12:22051858-22051859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190928058	chr12:22051869-22051870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138197122	chr12:22051933-22051934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183950762	chr12:22051964-22051965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572157500	chr12:22051980-22051981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79301791	chr12:22051992-22051993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187711661	chr12:22051993-22051994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34243384	chr12:22052147-22052148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs551965767	chr12:22052183-22052184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562309952	chr12:22052184-22052185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76991997	chr12:22052201-22052202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548170519	chr12:22052204-22052205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567690409	chr12:22052229-22052230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536245826	chr12:22052240-22052241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529864377	chr12:22052249-22052250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192221606	chr12:22052259-22052260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548215951	chr12:22052318-22052319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376656091	chr12:22052353-22052354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539101204	chr12:22052421-22052422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559215030	chr12:22052428-22052429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11046224	chr12:22052441-22052442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538566145	chr12:22052479-22052480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376497294	chr12:22052512-22052513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375259797	chr12:22052515-22052516	Weak transcription Enhancers	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:145 , 50 per page) page: 1 2 3

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	chr12:22045000-22059200	Weak transcription	Left Ventricle	heart
4	chr12:22045200-22053800	Weak transcription	Right Ventricle	heart
5	chr12:22045200-22058800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:22045400-22064800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:22045600-22053000	Weak transcription	Aorta	Aorta
8	chr12:22045600-22059200	Weak transcription	NHLF	lung
9	chr12:22045600-22064800	Weak transcription	Fetal Heart	heart
10	chr12:22046000-22059000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:22047200-22058000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:22047200-22058400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:22047800-22058400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:22048000-22092000	Weak transcription	Psoas Muscle	Psoas
15	chr12:22048200-22054600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:22048200-22058400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:22048400-22060000	Weak transcription	Adipose Nuclei	Adipose
18	chr12:22048400-22091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:22048600-22059200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:22049400-22061600	Weak transcription	Fetal Kidney	kidney
21	chr12:22049400-22088600	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:22049600-22058800	Weak transcription	Liver	Liver
23	chr12:22050600-22051400	Enhancers	Fetal Lung	lung
24	chr12:22051400-22052200	Weak transcription	Fetal Lung	lung
25	chr12:22052200-22052600	Enhancers	Fetal Lung	lung
26	chr12:22052600-22060000	Weak transcription	Fetal Lung	lung
27	chr12:22058000-22061200	Weak transcription	Ovary	ovary
28	chr12:22058000-22065200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:22058400-22059000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:22058400-22061200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:22058400-22062000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:22058600-22059600	Enhancers	NHDF-Ad	bronchial
33	chr12:22058600-22060200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:22058800-22059400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:22058800-22059400	Strong transcription	Liver	Liver
36	chr12:22058800-22060800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:22059000-22059200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:22059000-22061200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:22059200-22059600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:22059200-22060000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:22059200-22060200	Enhancers	Osteobl	bone
42	chr12:22059200-22060600	Enhancers	NHLF	lung
43	chr12:22059200-22061800	Strong transcription	Left Ventricle	heart
44	chr12:22059200-22062600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:22059400-22059800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:22059400-22091800	Weak transcription	Liver	Liver
47	chr12:22059600-22060400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:22059600-22060400	Flanking Active TSS	NHDF-Ad	bronchial
49	chr12:22059800-22060200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:22059800-22060400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links