Variant report

Variant	esv3436359
Chromosome Location	chr12:105367822-105372020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:209)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:209 , 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	ATF2	chr12:105368276-105368956	GM12878	blood:	n/a	n/a
2	ATF2	chr12:105368342-105368854	GM12878	blood:	n/a	n/a
3	BATF	chr12:105368373-105368802	GM12878	blood:	n/a	n/a
4	BATF	chr12:105368453-105368784	GM12878	blood:	n/a	n/a
5	BCL11A	chr12:105368445-105368735	GM12878	blood:	n/a	n/a
6	BCL11A	chr12:105368354-105368777	GM12878	blood:	n/a	n/a
7	BCL3	chr12:105368433-105368763	GM12878	blood:	n/a	n/a
8	BCL3	chr12:105368529-105368781	GM12878	blood:	n/a	n/a
9	BCLAF1	chr12:105368367-105368796	GM12878	blood:	n/a	n/a
10	BCLAF1	chr12:105368296-105368960	GM12878	blood:	n/a	n/a
11	BHLHE40	chr12:105368464-105368900	GM12878	blood:	n/a	n/a
12	CEBPB	chr12:105368300-105368908	GM12878	blood:	n/a	n/a
13	CEBPB	chr12:105368390-105368693	K562	blood:	n/a	n/a
14	CEBPB	chr12:105368378-105368687	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr12:105368380-105368712	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:105368454-105368676	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr12:105368364-105368737	MCF-7	breast:	n/a	n/a
18	CEBPB	chr12:105368386-105368728	A549	lung:	n/a	n/a
19	CEBPB	chr12:105368378-105368696	IMR90	lung:	n/a	n/a
20	CEBPB	chr12:105368479-105368690	GM12878	blood:	n/a	n/a
21	CEBPB	chr12:105368388-105369022	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr12:105369368-105369855	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr12:105369456-105369811	IMR90	lung:	n/a	n/a
24	CHD2	chr12:105368436-105368903	GM12878	blood:	n/a	n/a
25	CREB1	chr12:105368421-105368912	GM12878	blood:	n/a	n/a
26	CREB1	chr12:105368256-105368910	GM12878	blood:	n/a	n/a
27	CTCF	chr12:105370640-105370790	RPTEC	kidney:	n/a	n/a
28	CTCF	chr12:105370360-105370510	RPTEC	kidney:	n/a	n/a
29	CTCF	chr12:105370640-105370790	HEK293	kidney:	n/a	n/a
30	CTCF	chr12:105370486-105370793	K562	blood:	n/a	n/a
31	CTCF	chr12:105370552-105370784	K562	blood:	n/a	n/a
32	CTCF	chr12:105370576-105370767	NHEK	skin:	n/a	n/a
33	CTCF	chr12:105370500-105370650	HCFaa	heart:	n/a	n/a
34	CTCF	chr12:105370553-105370805	A549	lung:	n/a	n/a
35	CTCF	chr12:105370577-105370766	A549	lung:	n/a	n/a
36	CTCF	chr12:105370641-105370731	GM19240	blood:	n/a	n/a
37	CTCF	chr12:105371131-105371220	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr12:105370500-105370650	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr12:105370620-105370770	GM12873	blood:	n/a	n/a
40	CTCF	chr12:105370660-105370810	HVMF	connective:	n/a	n/a
41	CTCF	chr12:105370600-105370750	NB4	blood:	n/a	n/a
42	CTCF	chr12:105370525-105370841	K562	blood:	n/a	n/a
43	CTCF	chr12:105370660-105370810	NHEK	skin:	n/a	n/a
44	CTCF	chr12:105370560-105370710	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr12:105370540-105370690	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr12:105370360-105370510	NB4	blood:	n/a	n/a
47	CTCF	chr12:105370520-105370670	K562	blood:	n/a	n/a
48	CTCF	chr12:105370676-105370707	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:105370627-105370721	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr12:105370640-105370790	HA-sp	spinal cord:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105371850..105375601-chr12:105378341..105381533,4	K562	blood:
2	chr12:105350976..105355078-chr12:105366279..105369986,4	MCF-7	breast:
3	chr12:105367392..105369569-chr12:105378392..105380770,2	MCF-7	breast:
4	chr12:105368926..105370513-chr12:105372160..105373896,2	MCF-7	breast:
5	chr12:105365761..105368091-chr12:105378210..105380629,2	MCF-7	breast:
6	chr12:105368507..105370397-chr12:105372355..105374469,3	MCF-7	breast:

No data

Variant related genes	Relation type
KRT18P20	TF binding region
ENSG00000151131	chromatin interactions
ENSG00000136052	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550630190	chr12:105367850-105367851	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551389443	chr12:105367946-105367947	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571290347	chr12:105367986-105367987	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537188212	chr12:105368009-105368010	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs144768903	chr12:105368022-105368023	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567702814	chr12:105368023-105368024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10861300	chr12:105368036-105368037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs115169695	chr12:105368047-105368048	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573604876	chr12:105368114-105368115	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148588473	chr12:105368134-105368135	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531281746	chr12:105368159-105368160	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558622144	chr12:105368252-105368253	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs575305067	chr12:105368334-105368335	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs544342557	chr12:105368383-105368384	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560825361	chr12:105368417-105368418	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529755663	chr12:105368432-105368433	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540075447	chr12:105368438-105368439	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559894235	chr12:105368449-105368450	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549590800	chr12:105368462-105368463	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567809714	chr12:105368479-105368480	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12830972	chr12:105368484-105368485	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552043472	chr12:105368502-105368503	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369489599	chr12:105368517-105368518	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142952248	chr12:105368537-105368538	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs534906577	chr12:105368551-105368552	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567182500	chr12:105368565-105368566	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550909674	chr12:105368629-105368630	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7316078	chr12:105368651-105368652	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76517818	chr12:105368678-105368679	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546908387	chr12:105368683-105368684	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs553400787	chr12:105368686-105368687	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11112269	chr12:105368694-105368695	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185996190	chr12:105368697-105368698	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190722017	chr12:105368699-105368700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs12308952	chr12:105368727-105368728	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs151116182	chr12:105368743-105368744	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536517805	chr12:105368759-105368760	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs182828716	chr12:105368820-105368821	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542553266	chr12:105368826-105368827	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188297108	chr12:105368844-105368845	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs142005320	chr12:105368845-105368846	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192142042	chr12:105368891-105368892	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs182812469	chr12:105368893-105368894	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554576033	chr12:105368894-105368895	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs36094846	chr12:105368940-105368941	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562449829	chr12:105368988-105368989	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs531598662	chr12:105369055-105369056	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs550718063	chr12:105369056-105369057	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs375326301	chr12:105369057-105369058	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs368251145	chr12:105369058-105369059	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105360400-105368000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:105363600-105368000	Weak transcription	GM12878-XiMat	blood
3	chr12:105365200-105368600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:105365400-105368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:105365600-105368400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:105365800-105368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:105365800-105368400	Weak transcription	Osteobl	bone
8	chr12:105365800-105368600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:105365800-105368600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:105367000-105368000	Enhancers	NHEK	skin
11	chr12:105367000-105368200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:105367000-105368600	Enhancers	Placenta	Placenta
13	chr12:105367800-105368400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:105368000-105368200	Enhancers	GM12878-XiMat	blood
15	chr12:105368000-105368200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:105368000-105368800	Flanking Active TSS	NHEK	skin
17	chr12:105368000-105369000	Enhancers	Stomach Mucosa	stomach
18	chr12:105368000-105370800	Enhancers	HMEC	breast
19	chr12:105368000-105371800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:105368000-105371800	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:105368200-105368400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:105368200-105368800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:105368200-105369000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:105368200-105369000	Enhancers	Adipose Nuclei	Adipose
25	chr12:105368200-105369000	Flanking Active TSS	GM12878-XiMat	blood
26	chr12:105368200-105369000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:105368200-105370000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:105368200-105370200	Enhancers	Hela-S3	cervix
29	chr12:105368200-105372000	Enhancers	Primary B cells from cord blood	blood
30	chr12:105368400-105368600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:105368400-105369800	Enhancers	Osteobl	bone
32	chr12:105368400-105370200	Enhancers	NHDF-Ad	bronchial
33	chr12:105368400-105370400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:105368400-105370800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:105368600-105368800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:105368600-105368800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:105368600-105368800	Enhancers	NHLF	lung
38	chr12:105368600-105370000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr12:105368600-105370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:105368600-105370200	Enhancers	HSMM	muscle
41	chr12:105368600-105370400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:105368600-105370600	Weak transcription	Placenta	Placenta
43	chr12:105368800-105369400	Weak transcription	NHLF	lung
44	chr12:105368800-105369600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:105368800-105369800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:105368800-105370400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:105368800-105370400	Enhancers	NHEK	skin
48	chr12:105369000-105370000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:105369000-105371200	Enhancers	GM12878-XiMat	blood
50	chr12:105369000-105371600	Enhancers	Monocytes-CD14+_RO01746	blood

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