Variant report

Variant	esv1824379
Chromosome Location	chr12:103501562-103549931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:29)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:185 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:103522800-103523221	HepG2	liver:	n/a	n/a
2	ATF2	chr12:103537893-103538455	GM12878	blood:	n/a	n/a
3	ATF2	chr12:103537944-103538377	GM12878	blood:	n/a	n/a
4	ATF2	chr12:103507953-103508895	GM12878	blood:	n/a	n/a
5	ATF2	chr12:103507916-103508908	GM12878	blood:	n/a	n/a
6	BATF	chr12:103508505-103508788	GM12878	blood:	n/a	chr12:103508653-103508664 chr12:103508654-103508664
7	BATF	chr12:103508062-103508483	GM12878	blood:	n/a	n/a
8	BCL11A	chr12:103538047-103538352	GM12878	blood:	n/a	n/a
9	BCL11A	chr12:103508026-103508941	GM12878	blood:	n/a	chr12:103508657-103508666 chr12:103508656-103508665
10	BCL11A	chr12:103508132-103508462	GM12878	blood:	n/a	n/a
11	BCL3	chr12:103508092-103508535	GM12878	blood:	n/a	n/a
12	BCL3	chr12:103508049-103508785	GM12878	blood:	n/a	chr12:103508657-103508666 chr12:103508656-103508665
13	BCLAF1	chr12:103507971-103508884	GM12878	blood:	n/a	chr12:103508657-103508666 chr12:103508656-103508665
14	BCLAF1	chr12:103508021-103508800	GM12878	blood:	n/a	chr12:103508657-103508666 chr12:103508656-103508665
15	BHLHE40	chr12:103538664-103538676	GM12878	blood:	n/a	n/a
16	BRCA1	chr12:103503705-103503927	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr12:103522795-103523057	HepG2	liver:	n/a	chr12:103522886-103522898
18	CEBPB	chr12:103539451-103539595	A549	lung:	n/a	chr12:103539547-103539558
19	CEBPB	chr12:103537901-103538490	GM12878	blood:	n/a	n/a
20	CEBPB	chr12:103539399-103539603	HepG2	liver:	n/a	chr12:103539547-103539558
21	CEBPB	chr12:103534221-103534472	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr12:103507916-103508641	GM12878	blood:	n/a	n/a
23	CEBPB	chr12:103508123-103508485	GM12878	blood:	n/a	n/a
24	CHD2	chr12:103538085-103538473	GM12878	blood:	n/a	n/a
25	CHD2	chr12:103507988-103508893	GM12878	blood:	n/a	n/a
26	CHD2	chr12:103511410-103511502	GM12878	blood:	n/a	n/a
27	CTCF	chr12:103545600-103545750	BE2_C	brain:	n/a	n/a
28	CTCF	chr12:103538640-103538790	GM12865	blood:	n/a	n/a
29	CTCF	chr12:103512780-103512930	BE2_C	brain:	n/a	n/a
30	CTCF	chr12:103538136-103538317	GM12878	blood:	n/a	n/a
31	CTCF	chr12:103508229-103508295	GM12878	blood:	n/a	n/a
32	CTCF	chr12:103508140-103508290	GM12873	blood:	n/a	n/a
33	CTCF	chr12:103522716-103522760	GM13976	blood:	n/a	n/a
34	CTCF	chr12:103507323-103507408	GM12878	blood:	n/a	n/a
35	CUX1	chr12:103509416-103509450	GM12878	blood:	n/a	n/a
36	CUX1	chr12:103505475-103505531	GM12878	blood:	n/a	n/a
37	CUX1	chr12:103507778-103508861	GM12878	blood:	n/a	n/a
38	E2F4	chr12:103510394-103510594	MCF10A-Er-Src	breast:	n/a	n/a
39	EBF1	chr12:103538072-103538560	GM12878	blood:	n/a	n/a
40	EBF1	chr12:103507968-103508911	GM12878	blood:	n/a	chr12:103508293-103508304
41	EBF1	chr12:103538087-103538446	GM12878	blood:	n/a	n/a
42	EBF1	chr12:103507946-103508855	GM12878	blood:	n/a	chr12:103508293-103508304
43	EBF1	chr12:103507350-103508995	GM12878	blood:	n/a	chr12:103508293-103508304
44	ELK1	chr12:103538084-103538341	GM12878	blood:	n/a	n/a
45	EP300	chr12:103508027-103508823	GM12878	blood:	n/a	chr12:103508657-103508666
46	EP300	chr12:103507762-103508895	GM12878	blood:	n/a	chr12:103508657-103508666
47	EP300	chr12:103507981-103508873	GM12878	blood:	n/a	chr12:103508657-103508666
48	EP300	chr12:103538051-103538486	GM12878	blood:	n/a	chr12:103538450-103538458
49	EP300	chr12:103511236-103511564	GM12878	blood:	n/a	n/a
50	EP300	chr12:103511228-103511480	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:103496611..103498948-chr12:103501564..103503561,3	K562	blood:

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	XLOC_009858
2	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	XLOC_009858
3	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	XLOC_009858
4	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	XLOC_009858
5	lnc-RP11-552I14.1.1-1	chr12:103545604-103545696	XLOC_009858
6	lnc-RP11-552I14.1.1-1	chr12:103545604-103545696	XLOC_009858
7	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	XLOC_009858
8	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	NONHSAT030355
9	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	XLOC_009858
10	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	XLOC_009858
11	lnc-RP11-552I14.1.1-1	chr12:103545621-103545696	XLOC_009858
12	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	XLOC_009858
13	lnc-RP11-552I14.1.1-1	chr12:103549006-103549047	XLOC_009858
14	lnc-RP11-552I14.1.1-1	chr12:103548775-103549047	NONHSAT030350
15	lnc-C12orf42-1	chr12:103517823-103518106	XLOC_010177
16	lnc-RP11-552I14.1.1-1	chr12:103549006-103549047	XLOC_009858
17	lnc-RP11-552I14.1.1-1	chr12:103549876-103549986	NONHSAT030350
18	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	XLOC_009858
19	lnc-RP11-552I14.1.1-1	chr12:103548776-103549047	XLOC_009858
20	lnc-RP11-552I14.1.1-1	chr12:103548925-103549047	NONHSAT030355
21	lnc-C12orf42-1	chr12:103517010-103517218	XLOC_010177
22	lnc-RP11-552I14.1.1-1	chr12:103549006-103549047	XLOC_009858
23	lnc-RP11-552I14.1.1-1	chr12:103549877-103549986	XLOC_009858
24	lnc-RP11-552I14.1.1-1	chr12:103545633-103545696	NONHSAT030355
25	lnc-RP11-552I14.1.1-1	chr12:103545603-103545696	NONHSAT030350
26	lnc-RP11-552I14.1.1-1	chr12:103548776-103549047	XLOC_009858
27	lnc-RP11-552I14.1.1-1	chr12:103549006-103549047	XLOC_009858
28	lnc-C12orf42-1	chr12:103513592-103513788	XLOC_010177
29	lnc-RP11-552I14.1.1-1	chr12:103545604-103545696	XLOC_009858

No data

Variant related genes	Relation type
ENSG00000257860	TF binding region
RNU7-184P	TF binding region
CBR4	miRNA target sites
E2F6	miRNA target sites
MTMR6	miRNA target sites
RAVER1	miRNA target sites
MTMR4	miRNA target sites
FAM46A	miRNA target sites
ZEB1	miRNA target sites

Extended variants
information (count: 922 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188545907	chr12:103507221-103507222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568938505	chr12:103507248-103507249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538017373	chr12:103507332-103507333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191728737	chr12:103507359-103507360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184643863	chr12:103507386-103507387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574352369	chr12:103507438-103507439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567112890	chr12:103507496-103507497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553350278	chr12:103507554-103507555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17549584	chr12:103507608-103507609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146709933	chr12:103507623-103507624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577902153	chr12:103507668-103507669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189071872	chr12:103507670-103507671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545267231	chr12:103507733-103507734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139254839	chr12:103507759-103507760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539329414	chr12:103507795-103507796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542371971	chr12:103507810-103507811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562377694	chr12:103507817-103507818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563547464	chr12:103507818-103507819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527942216	chr12:103507826-103507827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547858208	chr12:103507842-103507843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182572511	chr12:103507844-103507845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530893811	chr12:103507866-103507867	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs115892246	chr12:103507884-103507885	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549212478	chr12:103507885-103507886	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs187025737	chr12:103507893-103507894	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201127282	chr12:103507916-103507917	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs570101606	chr12:103507946-103507947	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs189476914	chr12:103507952-103507953	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs547938438	chr12:103507960-103507961	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs568063122	chr12:103507967-103507968	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs180731875	chr12:103507971-103507972	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs35354480	chr12:103508026-103508027	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs144101288	chr12:103508038-103508039	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs201243669	chr12:103508042-103508043	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs201619705	chr12:103508094-103508095	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs116916548	chr12:103508097-103508098	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs555998538	chr12:103508102-103508103	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs571591288	chr12:103508103-103508104	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs113115780	chr12:103508134-103508135	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs555992022	chr12:103508141-103508142	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs149117450	chr12:103508162-103508163	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs550819591	chr12:103508167-103508168	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs541725303	chr12:103508179-103508180	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs564742590	chr12:103508193-103508194	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs559241647	chr12:103508242-103508243	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs535417456	chr12:103508306-103508307	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs369240831	chr12:103508323-103508324	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs375653962	chr12:103508339-103508340	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs143198727	chr12:103508343-103508344	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs117258231	chr12:103508386-103508387	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute lymphoblastic leukemia	21339820	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103507200-103508000	Enhancers	GM12878-XiMat	blood
2	chr12:103508000-103508800	Flanking Active TSS	GM12878-XiMat	blood
3	chr12:103508000-103509000	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:103508000-103509200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:103508000-103509200	Enhancers	Fetal Intestine Large	intestine
6	chr12:103508000-103509400	Enhancers	Fetal Intestine Small	intestine
7	chr12:103508200-103509400	Enhancers	Duodenum Mucosa	Duodenum
8	chr12:103508400-103508800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:103508400-103509600	Enhancers	Stomach Mucosa	stomach
10	chr12:103508400-103511200	Enhancers	Liver	Liver
11	chr12:103508800-103509400	Enhancers	GM12878-XiMat	blood
12	chr12:103509600-103510800	Weak transcription	Stomach Mucosa	stomach
13	chr12:103509800-103510200	Weak transcription	GM12878-XiMat	blood
14	chr12:103510400-103510600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr12:103510400-103512000	Enhancers	GM12878-XiMat	blood
16	chr12:103511000-103511400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:103511200-103511400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr12:103511200-103511400	Enhancers	Stomach Mucosa	stomach
19	chr12:103511400-103511600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:103511600-103512000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:103512000-103512800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:103512800-103513200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:103516600-103516800	Active TSS	Pancreas	Pancrea
24	chr12:103516800-103522000	Weak transcription	Pancreas	Pancrea
25	chr12:103521800-103522600	Enhancers	Fetal Intestine Small	intestine
26	chr12:103521800-103524800	Enhancers	Liver	Liver
27	chr12:103522000-103522200	Enhancers	Pancreas	Pancrea
28	chr12:103522200-103522800	Weak transcription	Pancreas	Pancrea
29	chr12:103522600-103523000	Weak transcription	Fetal Intestine Small	intestine
30	chr12:103522800-103523000	Enhancers	Pancreas	Pancrea
31	chr12:103522800-103523200	Enhancers	Gastric	stomach
32	chr12:103522800-103523400	Enhancers	Duodenum Mucosa	Duodenum
33	chr12:103523000-103524000	Enhancers	Fetal Intestine Small	intestine
34	chr12:103531400-103531800	Enhancers	Fetal Brain Male	brain
35	chr12:103531800-103533400	Weak transcription	Fetal Brain Male	brain
36	chr12:103532000-103533600	Enhancers	Liver	Liver
37	chr12:103533400-103534000	Enhancers	Brain Cingulate Gyrus	brain
38	chr12:103533400-103534400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:103533400-103534600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:103533400-103535000	Enhancers	Fetal Brain Female	brain
41	chr12:103533400-103535200	Enhancers	Fetal Brain Male	brain
42	chr12:103533600-103534600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr12:103533600-103534600	Weak transcription	Liver	Liver
44	chr12:103533600-103534800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:103533600-103534800	Enhancers	Brain Germinal Matrix	brain
46	chr12:103533800-103534200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr12:103533800-103534600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:103533800-103534600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:103533800-103534800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:103533800-103534800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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