Variant report

Variant	esv3417930
Chromosome Location	chr12:21018950-21179498
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	BATF	chr12:21090344-21090547	GM12878	blood:	n/a	n/a
2	BATF	chr12:21021928-21022137	GM12878	blood:	n/a	chr12:21022019-21022030
3	BHLHE40	chr12:21138511-21138625	GM12878	blood:	n/a	n/a
4	BRCA1	chr12:21103222-21103500	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr12:21114301-21114316	A549	lung:	n/a	n/a
6	CEBPB	chr12:21037942-21038507	A549	lung:	n/a	n/a
7	CEBPB	chr12:21036155-21036832	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
8	CEBPB	chr12:21038089-21038427	A549	lung:	n/a	n/a
9	CEBPB	chr12:21175943-21176096	H1-hESC	embryonic stem cell:	n/a	chr12:21176036-21176047 chr12:21176037-21176048 chr12:21176036-21176049 chr12:21176038-21176047
10	CEBPB	chr12:21065012-21065124	HepG2	liver:	n/a	chr12:21065034-21065045
11	CEBPB	chr12:21056070-21056238	HepG2	liver:	n/a	n/a
12	CEBPB	chr12:21036286-21036659	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
13	CEBPB	chr12:21038060-21038439	A549	lung:	n/a	n/a
14	CEBPB	chr12:21071557-21071721	A549	lung:	n/a	n/a
15	CEBPB	chr12:21168771-21169100	A549	lung:	n/a	chr12:21168919-21168930
16	CEBPB	chr12:21127431-21127656	HepG2	liver:	n/a	chr12:21127518-21127529
17	CEBPB	chr12:21036268-21036667	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
18	CEBPB	chr12:21133477-21133530	HepG2	liver:	n/a	n/a
19	CEBPB	chr12:21175930-21176170	HepG2	liver:	n/a	chr12:21176036-21176047 chr12:21176037-21176048 chr12:21176036-21176049 chr12:21176038-21176047
20	CEBPB	chr12:21036323-21036549	HepG2	liver:	n/a	chr12:21036463-21036474
21	CEBPB	chr12:21168858-21169067	H1-hESC	embryonic stem cell:	n/a	chr12:21168919-21168930
22	CEBPB	chr12:21168774-21169104	HepG2	liver:	n/a	chr12:21168919-21168930
23	CEBPB	chr12:21036282-21036646	Hela-S3	cervix:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
24	CTCF	chr12:21099760-21099910	HRE	kidney:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
25	CTCF	chr12:21103180-21103330	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr12:21099720-21099870	AG04450	lung:	n/a	n/a
27	CTCF	chr12:21022130-21022264	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr12:21103320-21103470	HEK293	kidney:	n/a	n/a
29	CTCF	chr12:21103268-21103442	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr12:21099760-21100000	H1-hESC	embryonic stem cell:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
31	CTCF	chr12:21099820-21099970	HFF-Myc	foreskin:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
32	CTCF	chr12:21099460-21099610	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr12:21099786-21099945	GM13976	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
34	CTCF	chr12:21103320-21103470	GM12873	blood:	n/a	n/a
35	CTCF	chr12:21103720-21103870	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr12:21099740-21099890	HMEC	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
37	CTCF	chr12:21099400-21099670	GM12872	blood:	n/a	n/a
38	CTCF	chr12:21099700-21099850	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr12:21103235-21103511	A549	lung:	n/a	n/a
40	CTCF	chr12:21103222-21103523	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr12:21100100-21100250	GM06990	blood:	n/a	n/a
42	CTCF	chr12:21057658-21057757	GM10248	blood:	n/a	n/a
43	CTCF	chr12:21103280-21103430	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr12:21099780-21099930	SK-N-SH_RA	brain:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
45	CTCF	chr12:21103560-21103710	GM12869	blood:	n/a	n/a
46	CTCF	chr12:21103320-21103470	GM06990	blood:	n/a	n/a
47	CTCF	chr12:21099780-21099930	HMEC	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
48	CTCF	chr12:21103320-21103470	AG04449	skin:	n/a	n/a
49	CTCF	chr12:21022145-21022262	Gliobla	brain:	n/a	n/a
50	CTCF	chr12:21099524-21100216	A549	lung:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872

No.	Distal block	Cell Line	Cell type
1	chr12:21103010..21104123-chr12:21218514..21219449,3	MCF-7	breast:
2	chr12:21099355..21100332-chr12:21322634..21323175,3	MCF-7	breast:
3	chr12:21154478..21155199-chr12:21322720..21323314,2	MCF-7	breast:
4	chr12:21099378..21100255-chr12:21322524..21323110,2	MCF-7	breast:
5	chr12:21102918..21103853-chr12:21322562..21323307,3	MCF-7	breast:
6	chr12:21099420..21100309-chr12:21218592..21219170,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO1A2-5	chr12:21083248-21084757	NONHSAT027238

Variant related genes	Relation type
SLCO1B7	TF binding region

Extended variants
information (count: 5192 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:5192 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117239853	chr12:21018956-21018957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75393367	chr12:21018967-21018968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139370114	chr12:21018973-21018974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548557293	chr12:21018977-21018978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552020429	chr12:21018991-21018992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73069243	chr12:21018997-21018998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369748658	chr12:21019027-21019028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144049594	chr12:21019037-21019038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7962742	chr12:21019061-21019062	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536297755	chr12:21019082-21019083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552965998	chr12:21019090-21019091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113148400	chr12:21019116-21019117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114588251	chr12:21019126-21019127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113343598	chr12:21019171-21019172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545053384	chr12:21019194-21019195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7962678	chr12:21019196-21019197	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558425551	chr12:21019218-21019219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536124419	chr12:21019259-21019260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184342085	chr12:21019273-21019274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543690817	chr12:21019311-21019312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188501113	chr12:21019331-21019332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369745949	chr12:21019352-21019353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75431130	chr12:21019365-21019366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542708571	chr12:21019379-21019380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79897518	chr12:21019398-21019399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74817237	chr12:21019400-21019401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552828875	chr12:21019421-21019422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564739783	chr12:21019441-21019442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141066147	chr12:21019456-21019457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528115262	chr12:21019471-21019472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551071585	chr12:21019477-21019478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566800786	chr12:21019485-21019486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7963069	chr12:21019489-21019490	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550763660	chr12:21019495-21019496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567479552	chr12:21019536-21019537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536369239	chr12:21019605-21019606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77551319	chr12:21019644-21019645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566837263	chr12:21019650-21019651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200090135	chr12:21019665-21019666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398116204	chr12:21019673-21019674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4762684	chr12:21019725-21019726	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577873682	chr12:21019737-21019738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543702088	chr12:21019739-21019740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144200790	chr12:21019746-21019747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4762685	chr12:21019747-21019748	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542819020	chr12:21019784-21019785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145476858	chr12:21019799-21019800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4762801	chr12:21019837-21019838	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7963757	chr12:21019850-21019851	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7963762	chr12:21019861-21019862	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
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
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
Myofibroblastic sarcoma	19369631	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21017800-21019200	Enhancers	HUVEC	blood vessel
2	chr12:21018400-21020800	Weak transcription	Liver	Liver
3	chr12:21018800-21020600	Strong transcription	A549	lung
4	chr12:21019800-21020000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:21020000-21020400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:21020000-21020600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:21020600-21021600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:21020600-21027400	Weak transcription	A549	lung
9	chr12:21020800-21021200	Strong transcription	Liver	Liver
10	chr12:21020800-21021600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:21021200-21024600	Weak transcription	Liver	Liver
12	chr12:21021600-21022200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:21024600-21026200	Strong transcription	Liver	Liver
14	chr12:21026200-21027800	Weak transcription	Liver	Liver
15	chr12:21027400-21028400	Strong transcription	A549	lung
16	chr12:21027800-21029600	Strong transcription	Liver	Liver
17	chr12:21028400-21035800	Weak transcription	A549	lung
18	chr12:21029600-21032400	Weak transcription	Liver	Liver
19	chr12:21032400-21035400	Strong transcription	Liver	Liver
20	chr12:21034000-21034200	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:21034400-21035000	Enhancers	Stomach Mucosa	stomach
22	chr12:21034400-21035600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:21035000-21035400	Weak transcription	Stomach Mucosa	stomach
24	chr12:21035400-21036000	Enhancers	Stomach Mucosa	stomach
25	chr12:21035400-21039000	Weak transcription	Liver	Liver
26	chr12:21035600-21036200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:21035600-21036600	Enhancers	Rectal Smooth Muscle	rectum
28	chr12:21035600-21037800	Enhancers	Colon Smooth Muscle	Colon
29	chr12:21035800-21036600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr12:21035800-21037000	Enhancers	Adipose Nuclei	Adipose
31	chr12:21035800-21037600	Enhancers	HUVEC	blood vessel
32	chr12:21035800-21038200	Enhancers	A549	lung
33	chr12:21038200-21038400	Flanking Active TSS	A549	lung
34	chr12:21038400-21038800	Enhancers	A549	lung
35	chr12:21038800-21040600	Weak transcription	A549	lung
36	chr12:21039000-21040000	Strong transcription	Liver	Liver
37	chr12:21040000-21046600	Weak transcription	Liver	Liver
38	chr12:21044600-21054200	Weak transcription	A549	lung
39	chr12:21046600-21048400	Strong transcription	Liver	Liver
40	chr12:21048400-21052400	Weak transcription	Liver	Liver
41	chr12:21049800-21050200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:21051800-21052200	Weak transcription	Aorta	Aorta
43	chr12:21052400-21052600	Enhancers	Aorta	Aorta
44	chr12:21052400-21056000	Strong transcription	Liver	Liver
45	chr12:21054200-21056600	Strong transcription	A549	lung
46	chr12:21056000-21058200	ZNF genes & repeats	Liver	Liver
47	chr12:21056600-21058400	ZNF genes & repeats	A549	lung
48	chr12:21057400-21058200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr12:21057400-21058200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:21058200-21068400	Weak transcription	Liver	Liver

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