Variant report

Variant	esv3521481
Chromosome Location	chr12:21075030-21248548
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	BHLHE40	chr12:21138511-21138625	GM12878	blood:	n/a	n/a
3	BRCA1	chr12:21103222-21103500	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:21168774-21169104	HepG2	liver:	n/a	chr12:21168919-21168930
5	CEBPB	chr12:21243036-21243304	IMR90	lung:	n/a	chr12:21243166-21243177
6	CEBPB	chr12:21243024-21243307	HepG2	liver:	n/a	chr12:21243166-21243177
7	CEBPB	chr12:21246783-21246933	HepG2	liver:	n/a	chr12:21246828-21246839
8	CEBPB	chr12:21215636-21215960	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	chr12:21168771-21169100	A549	lung:	n/a	chr12:21168919-21168930
11	CEBPB	chr12:21133477-21133530	HepG2	liver:	n/a	n/a
12	CEBPB	chr12:21193668-21193806	K562	blood:	n/a	chr12:21193754-21193765
13	CEBPB	chr12:21193602-21193866	HepG2	liver:	n/a	chr12:21193754-21193765
14	CEBPB	chr12:21114301-21114316	A549	lung:	n/a	n/a
15	CEBPB	chr12:21233354-21233510	A549	lung:	n/a	n/a
16	CEBPB	chr12:21234048-21234229	H1-hESC	embryonic stem cell:	n/a	chr12:21234179-21234190
17	CEBPB	chr12:21193722-21193901	H1-hESC	embryonic stem cell:	n/a	chr12:21193754-21193765
18	CEBPB	chr12:21175930-21176170	HepG2	liver:	n/a	chr12:21176036-21176047 chr12:21176037-21176048 chr12:21176036-21176049 chr12:21176038-21176047
19	CEBPB	chr12:21127431-21127656	HepG2	liver:	n/a	chr12:21127518-21127529
20	CEBPB	chr12:21243014-21243312	A549	lung:	n/a	chr12:21243166-21243177
21	CEBPB	chr12:21234037-21234356	A549	lung:	n/a	chr12:21234179-21234190
22	CEBPB	chr12:21234009-21234357	HepG2	liver:	n/a	chr12:21234179-21234190
23	CEBPB	chr12:21193579-21193868	A549	lung:	n/a	chr12:21193754-21193765
24	CEBPB	chr12:21168858-21169067	H1-hESC	embryonic stem cell:	n/a	chr12:21168919-21168930
25	CEBPB	chr12:21193668-21193868	Hela-S3	cervix:	n/a	chr12:21193754-21193765
26	CHD2	chr12:21218752-21218883	GM12878	blood:	n/a	n/a
27	CTCF	chr12:21103170-21103571	GM12878	blood:	n/a	n/a
28	CTCF	chr12:21103140-21103290	K562	blood:	n/a	n/a
29	CTCF	chr12:21099800-21099950	Hela-S3	cervix:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
30	CTCF	chr12:21103520-21103670	GM12868	blood:	n/a	n/a
31	CTCF	chr12:21099739-21099989	GM12878	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
32	CTCF	chr12:21099660-21099810	HVMF	connective:	n/a	n/a
33	CTCF	chr12:21099820-21099970	HL-60	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
34	CTCF	chr12:21227120-21227270	HAc	cerebellar:	n/a	n/a
35	CTCF	chr12:21103300-21103450	BJ	skin:	n/a	n/a
36	CTCF	chr12:21099820-21099970	WERI-Rb-1	eye:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
37	CTCF	chr12:21103300-21103450	NB4	blood:	n/a	n/a
38	CTCF	chr12:21103500-21103650	HPF	lung:	n/a	n/a
39	CTCF	chr12:21103080-21103230	GM12870	blood:	n/a	n/a
40	CTCF	chr12:21099722-21100010	HUVEC	blood vessel:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
41	CTCF	chr12:21218920-21219070	NB4	blood:	n/a	n/a
42	CTCF	chr12:21103260-21103410	HL-60	blood:	n/a	n/a
43	CTCF	chr12:21226320-21226470	HCT-116	colon:	n/a	n/a
44	CTCF	chr12:21218880-21219030	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr12:21099780-21099930	RPTEC	kidney:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
46	CTCF	chr12:21099638-21100081	MCF-7	breast:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
47	CTCF	chr12:21099800-21099950	GM12801	blood:	n/a	chr12:21099862-21099883 chr12:21099861-21099877 chr12:21099860-21099878 chr12:21099863-21099872
48	CTCF	chr12:21103231-21103465	T-47D	breast:	n/a	n/a
49	CTCF	chr12:21103200-21103350	AG09309	skin:	n/a	n/a
50	CTCF	chr12:21103340-21103490	RPTEC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:21103010..21104123-chr12:21218514..21219449,3	MCF-7	breast:
2	chr12:21154478..21155199-chr12:21322720..21323314,2	MCF-7	breast:
3	chr12:21099355..21100332-chr12:21322634..21323175,3	MCF-7	breast:
4	chr12:21099420..21100309-chr12:21218592..21219170,2	MCF-7	breast:
5	chr12:21220478..21221206-chr12:21228660..21229307,2	MCF-7	breast:
6	chr12:21099378..21100255-chr12:21322524..21323110,2	MCF-7	breast:
7	chr12:21099420..21100309-chr12:21218592..21219170,2	MCF-7	breast:
8	chr12:21193958..21195458-chr17:59872939..59874521,2	MCF-7	breast:
9	chr12:21103010..21104123-chr12:21218514..21219449,3	MCF-7	breast:
10	chr12:21102918..21103853-chr12:21322562..21323307,3	MCF-7	breast:
11	chr12:21220478..21221206-chr12:21228660..21229307,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO1B1-1	chr12:21228194-21228718	NONHSAT027240
2	lnc-SLCO1A2-5	chr12:21083248-21084757	NONHSAT027238
3	lnc-SLCO1B1-1	chr12:21220285-21220317	NONHSAT027240

Variant related genes	Relation type
ENSG00000257062	TF binding region
SLCO1B7	TF binding region

Extended variants
information (count: 4356 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:4356 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539383577	chr12:21075056-21075057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180714894	chr12:21075068-21075069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575934883	chr12:21075072-21075073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73233654	chr12:21075096-21075097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78401307	chr12:21075162-21075163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148006173	chr12:21075172-21075173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78690042	chr12:21075183-21075184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529824094	chr12:21075259-21075260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140796884	chr12:21075280-21075281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187273536	chr12:21075281-21075282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551297235	chr12:21075282-21075283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564857894	chr12:21075298-21075299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80267686	chr12:21075303-21075304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4623954	chr12:21075330-21075331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201267555	chr12:21075332-21075333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369722325	chr12:21075337-21075338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567409652	chr12:21075350-21075351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542223358	chr12:21075354-21075355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10841711	chr12:21075366-21075367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192176613	chr12:21075387-21075388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566510561	chr12:21075481-21075482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529096842	chr12:21075495-21075496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547594670	chr12:21075524-21075525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558557480	chr12:21075537-21075538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576021485	chr12:21075551-21075552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527968261	chr12:21075554-21075555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372307809	chr12:21075591-21075592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75046449	chr12:21075592-21075593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55985524	chr12:21075594-21075595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61661364	chr12:21075599-21075600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574972553	chr12:21075623-21075624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540412417	chr12:21075646-21075647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73073300	chr12:21075707-21075708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533053388	chr12:21075712-21075713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576899010	chr12:21075733-21075734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545809266	chr12:21075885-21075886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374746214	chr12:21075933-21075934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530719008	chr12:21075937-21075938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549428264	chr12:21075948-21075949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369748368	chr12:21075951-21075952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550850411	chr12:21075953-21075954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560968459	chr12:21076008-21076009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74859616	chr12:21076009-21076010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183792091	chr12:21076046-21076047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546748223	chr12:21076063-21076064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570849488	chr12:21076093-21076094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2196019	chr12:21076145-21076146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs79277658	chr12:21076149-21076150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75954149	chr12:21076160-21076161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375517393	chr12:21076172-21076173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21058400-21080400	Weak transcription	A549	lung
2	chr12:21070600-21080600	Weak transcription	Liver	Liver
3	chr12:21080400-21080800	ZNF genes & repeats	A549	lung
4	chr12:21080600-21081000	ZNF genes & repeats	Liver	Liver
5	chr12:21081000-21103400	Weak transcription	Liver	Liver
6	chr12:21084800-21085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:21098200-21098600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:21103400-21103600	ZNF genes & repeats	Liver	Liver
9	chr12:21107800-21108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:21114400-21115200	ZNF genes & repeats	Liver	Liver
11	chr12:21115200-21115800	Weak transcription	Liver	Liver
12	chr12:21115800-21116600	Enhancers	Liver	Liver
13	chr12:21116600-21116800	Flanking Active TSS	Liver	Liver
14	chr12:21116800-21117000	Enhancers	Liver	Liver
15	chr12:21117000-21117200	Flanking Active TSS	Liver	Liver
16	chr12:21117200-21118600	Enhancers	Liver	Liver
17	chr12:21118600-21119000	Weak transcription	Liver	Liver
18	chr12:21119000-21123000	Enhancers	Liver	Liver
19	chr12:21125200-21125600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:21138000-21139200	Enhancers	Dnd41	blood
21	chr12:21138200-21145200	Weak transcription	Liver	Liver
22	chr12:21142800-21143000	ZNF genes & repeats	Gastric	stomach
23	chr12:21145200-21146400	ZNF genes & repeats	Liver	Liver
24	chr12:21146400-21154400	Weak transcription	Liver	Liver
25	chr12:21154400-21155000	ZNF genes & repeats	Liver	Liver
26	chr12:21154800-21155000	Enhancers	Gastric	stomach
27	chr12:21155000-21156800	Weak transcription	Liver	Liver
28	chr12:21171000-21172800	Weak transcription	Liver	Liver
29	chr12:21172800-21173600	Strong transcription	Liver	Liver
30	chr12:21173600-21176000	Weak transcription	Liver	Liver
31	chr12:21176000-21178200	Strong transcription	Liver	Liver
32	chr12:21178200-21178400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr12:21178200-21179800	Weak transcription	Liver	Liver
34	chr12:21179400-21179600	Enhancers	A549	lung
35	chr12:21179800-21180000	Strong transcription	Liver	Liver
36	chr12:21180000-21180200	ZNF genes & repeats	Liver	Liver
37	chr12:21180200-21180600	Weak transcription	Liver	Liver
38	chr12:21187400-21187800	Active TSS	Psoas Muscle	Psoas
39	chr12:21207800-21226600	Weak transcription	Liver	Liver
40	chr12:21226000-21226600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:21226200-21227000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:21226200-21227200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:21226200-21227600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr12:21226200-21227800	Enhancers	NH-A	brain
45	chr12:21226600-21227000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:21226600-21227200	Strong transcription	Liver	Liver
47	chr12:21227000-21231000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:21227200-21227400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr12:21227200-21241600	Weak transcription	Liver	Liver
50	chr12:21227400-21227600	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links