Variant report

Variant	nsv899208
Chromosome Location	chr12:64082220-64155212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:207)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:207 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:64106436-64106667	GM12878	blood:	n/a	n/a
2	BATF	chr12:64106394-64106647	GM12878	blood:	n/a	n/a
3	BHLHE40	chr12:64140352-64140455	K562	blood:	n/a	n/a
4	CEBPB	chr12:64152597-64152660	IMR90	lung:	n/a	chr12:64152637-64152650 chr12:64152637-64152648 chr12:64152637-64152650
5	CEBPB	chr12:64152568-64152793	HepG2	liver:	n/a	chr12:64152637-64152650 chr12:64152637-64152648 chr12:64152637-64152650
6	CEBPB	chr12:64152611-64152666	A549	lung:	n/a	chr12:64152637-64152650 chr12:64152637-64152648 chr12:64152637-64152650
7	CEBPB	chr12:64112080-64112114	Hela-S3	cervix:	n/a	chr12:64112093-64112106
8	CHD2	chr12:64140336-64140636	K562	blood:	n/a	n/a
9	CTCF	chr12:64147620-64147770	RPTEC	kidney:	n/a	n/a
10	CTCF	chr12:64126720-64126796	ProgFib	skin:	n/a	n/a
11	CTCF	chr12:64147600-64147750	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr12:64147720-64147870	HEK293	kidney:	n/a	n/a
13	CTCF	chr12:64147705-64147821	LNCaP	prostate:	n/a	n/a
14	CTCF	chr12:64147600-64147750	HCT-116	colon:	n/a	n/a
15	CTCF	chr12:64147680-64147830	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr12:64147730-64147748	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr12:64141037-64141113	GM10266	blood:	n/a	n/a
18	CTCF	chr12:64147620-64147770	AG04450	lung:	n/a	n/a
19	CTCF	chr12:64147600-64147750	HRE	kidney:	n/a	n/a
20	CTCF	chr12:64144633-64144713	GM20000	blood:	n/a	n/a
21	CTCF	chr12:64147620-64147770	HCFaa	heart:	n/a	n/a
22	CTCF	chr12:64147640-64147790	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:64147660-64147810	HMF	breast:	n/a	n/a
24	CTCF	chr12:64147660-64147810	K562	blood:	n/a	n/a
25	CTCF	chr12:64098081-64098115	MCF-7	breast:	n/a	n/a
26	CTCF	chr12:64147613-64147902	K562	blood:	n/a	n/a
27	CTCF	chr12:64147620-64147770	HVMF	connective:	n/a	n/a
28	CTCF	chr12:64147641-64147788	Fibrobl	skin:	n/a	n/a
29	CTCF	chr12:64147680-64147830	GM12873	blood:	n/a	n/a
30	CTCF	chr12:64147720-64147870	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr12:64147660-64147810	HepG2	liver:	n/a	n/a
32	CTCF	chr12:64147660-64147810	MCF-7	breast:	n/a	n/a
33	CTCF	chr12:64147700-64147850	GM12875	blood:	n/a	n/a
34	CTCF	chr12:64147700-64147850	SAEC	small airway:	n/a	n/a
35	CTCF	chr12:64147600-64147750	AG04450	lung:	n/a	n/a
36	CTCF	chr12:64147620-64147770	NHEK	skin:	n/a	n/a
37	CTCF	chr12:64147620-64147770	NHLF	lung:	n/a	n/a
38	CTCF	chr12:64147660-64147810	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr12:64147648-64147791	ProgFib	skin:	n/a	n/a
40	CTCF	chr12:64090705-64090726	GM13977	blood:	n/a	n/a
41	CTCF	chr12:64147620-64147770	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr12:64132501-64132565	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr12:64147620-64147770	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr12:64115712-64115746	GM13977	blood:	n/a	n/a
45	CTCF	chr12:64098059-64098164	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:64147700-64147850	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr12:64147686-64147750	MCF-7	breast:	n/a	n/a
48	CTCF	chr12:64147600-64147750	GM12874	blood:	n/a	n/a
49	CTCF	chr12:64147624-64147799	A549	lung:	n/a	n/a
50	CTCF	chr12:64118215-64118243	GM20000	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64088585..64090481-chr12:64171623..64173907,2	MCF-7	breast:
2	chr12:64144773..64147756-chr12:64148105..64150305,2	K562	blood:
3	chr12:64146351..64150331-chr12:64152285..64156825,7	K562	blood:
4	chr12:64144773..64147756-chr12:64148105..64150305,2	K562	blood:
5	chr12:64105781..64108214-chr12:64111007..64113844,2	K562	blood:
6	chr12:64116942..64118463-chr7:35277697..35279270,2	MCF-7	breast:
7	chr12:64150945..64153103-chr12:64172833..64174924,2	MCF-7	breast:
8	chr12:64105781..64108214-chr12:64111007..64113844,2	K562	blood:
9	chr12:64146656..64148356-chr12:64172858..64175015,2	MCF-7	breast:
10	chr12:64130174..64132619-chr12:64170875..64173477,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPY19L2-5	chr12:64154138-64154392	NONHSAT029117

No data

Variant related genes	Relation type
ENSG00000240027	TF binding region
ENSG00000255583	TF binding region
ENSG00000118600	chromatin interactions
ENSG00000240027	chromatin interactions
ADCY6	miRNA target sites

Extended variants
information (count: 977 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544159346	chr12:64088617-64088618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189534179	chr12:64088626-64088627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2954920	chr12:64088629-64088630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140200592	chr12:64088639-64088640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532541725	chr12:64088645-64088646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552752141	chr12:64088662-64088663	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559891203	chr12:64088668-64088669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192852225	chr12:64088672-64088673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185301917	chr12:64088721-64088722	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2723797	chr12:64088818-64088819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189414028	chr12:64088836-64088837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34171764	chr12:64088844-64088845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143894282	chr12:64088877-64088878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181568679	chr12:64088880-64088881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2723796	chr12:64088896-64088897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375200531	chr12:64088904-64088905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2723795	chr12:64088936-64088937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570155566	chr12:64089012-64089013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185067572	chr12:64089029-64089030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34963663	chr12:64089058-64089059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188261039	chr12:64089084-64089085	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35271398	chr12:64089121-64089122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373214125	chr12:64089123-64089124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs57306000	chr12:64089139-64089140	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35057760	chr12:64089155-64089156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577844964	chr12:64089177-64089178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560143991	chr12:64089193-64089194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34799280	chr12:64089208-64089209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74234940	chr12:64089231-64089232	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34089122	chr12:64089235-64089236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34809695	chr12:64089337-64089338	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575332861	chr12:64089338-64089339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4763115	chr12:64089342-64089343	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs564369863	chr12:64089376-64089377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2814411	chr12:64089378-64089379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146676739	chr12:64089410-64089411	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2723794	chr12:64089430-64089431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2723793	chr12:64089438-64089439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562840962	chr12:64089488-64089489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546229549	chr12:64089510-64089511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559754441	chr12:64089532-64089533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528614387	chr12:64089533-64089534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548377849	chr12:64089698-64089699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562348098	chr12:64089705-64089706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2814410	chr12:64089732-64089733	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs181829564	chr12:64089799-64089800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570817558	chr12:64089813-64089814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539708091	chr12:64089827-64089828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2661451	chr12:64089828-64089829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34301950	chr12:64089833-64089834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64104200-64105400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:64105000-64105600	Enhancers	NHDF-Ad	bronchial
3	chr12:64105000-64105800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:64105200-64105400	Enhancers	Osteobl	bone
5	chr12:64105400-64107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:64105800-64106200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:64106200-64106600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:64106800-64109400	Enhancers	Fetal Heart	heart
9	chr12:64107800-64108000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:64107800-64108200	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:64107800-64108200	Enhancers	GM12878-XiMat	blood
12	chr12:64107800-64108400	Enhancers	Ovary	ovary
13	chr12:64108200-64110200	Weak transcription	GM12878-XiMat	blood
14	chr12:64108600-64109400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:64109200-64109600	Enhancers	Fetal Intestine Large	intestine
16	chr12:64110200-64111600	Enhancers	GM12878-XiMat	blood
17	chr12:64126600-64128200	Enhancers	Fetal Heart	heart
18	chr12:64126800-64127000	Enhancers	Fetal Brain Male	brain
19	chr12:64127000-64128000	Weak transcription	Fetal Brain Male	brain
20	chr12:64128000-64130000	Enhancers	Fetal Brain Male	brain
21	chr12:64135000-64136000	Enhancers	NHDF-Ad	bronchial
22	chr12:64135200-64135400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:64135200-64136000	Enhancers	Osteobl	bone
24	chr12:64135600-64136000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:64136000-64137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:64136000-64137200	Weak transcription	NHDF-Ad	bronchial
27	chr12:64136000-64137600	Weak transcription	Osteobl	bone
28	chr12:64137200-64137400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr12:64137200-64137800	Enhancers	Left Ventricle	heart
30	chr12:64137200-64138400	Enhancers	HSMM	muscle
31	chr12:64137200-64138600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:64137200-64138800	Enhancers	Fetal Heart	heart
33	chr12:64137400-64137600	Enhancers	NHDF-Ad	bronchial
34	chr12:64137600-64137800	Flanking Active TSS	NHDF-Ad	bronchial
35	chr12:64137600-64138000	Enhancers	Osteobl	bone
36	chr12:64137600-64138200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:64137600-64138400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:64137600-64138600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:64137600-64138800	Enhancers	HSMMtube	muscle
40	chr12:64137800-64138800	Enhancers	NHDF-Ad	bronchial
41	chr12:64146000-64146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:64146000-64146600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:64146000-64146600	Enhancers	Dnd41	blood
44	chr12:64146000-64146800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:64146000-64146800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:64146200-64146600	Enhancers	Primary T cells from cord blood	blood
47	chr12:64146200-64146600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:64146200-64146600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:64146200-64146600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:64146200-64146600	Enhancers	Fetal Thymus	thymus

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