Variant report

Variant	nsv558116
Chromosome Location	chr12:31907274-31910009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:31909974-31910231	HepG2	liver:	n/a	n/a
2	ATF3	chr12:31909916-31910330	K562	blood:	n/a	n/a
3	BHLHE40	chr12:31909902-31910373	K562	blood:	n/a	n/a
4	CBX3	chr12:31909939-31910274	K562	blood:	n/a	n/a
5	CCNT2	chr12:31909897-31910312	K562	blood:	n/a	n/a
6	CEBPB	chr12:31910003-31910337	K562	blood:	n/a	n/a
7	CEBPB	chr12:31909882-31910292	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr12:31909759-31910308	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPD	chr12:31909935-31910418	K562	blood:	n/a	n/a
10	CEBPD	chr12:31909944-31910464	K562	blood:	n/a	n/a
11	CHD1	chr12:31909867-31909939	GM12878	blood:	n/a	n/a
12	CHD1	chr12:31908725-31908765	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr12:31909894-31910240	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr12:31909937-31910197	GM12878	blood:	n/a	n/a
15	EBF1	chr12:31909871-31910215	GM12878	blood:	n/a	n/a
16	EP300	chr12:31909947-31910259	Hela-S3	cervix:	n/a	n/a
17	EP300	chr12:31909938-31910378	HepG2	liver:	n/a	n/a
18	EP300	chr12:31909876-31910350	K562	blood:	n/a	n/a
19	EP300	chr12:31909621-31910599	ECC-1	luminal epithelium:	n/a	n/a
20	EP300	chr12:31909764-31910397	ECC-1	luminal epithelium:	n/a	n/a
21	FOS	chr12:31909933-31910230	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr12:31909932-31910232	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr12:31909935-31910239	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr12:31909931-31910254	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL1	chr12:31909905-31910270	K562	blood:	n/a	chr12:31910084-31910095
26	FOSL1	chr12:31909908-31910202	K562	blood:	n/a	chr12:31910084-31910095
27	FOSL2	chr12:31909854-31910220	HepG2	liver:	n/a	n/a
28	FOSL2	chr12:31909836-31910245	HepG2	liver:	n/a	n/a
29	FOSL2	chr12:31909785-31910354	A549	lung:	n/a	n/a
30	FOXM1	chr12:31909565-31910482	ECC-1	luminal epithelium:	n/a	n/a
31	GABPA	chr12:31909905-31910320	K562	blood:	n/a	n/a
32	GATA1	chr12:31909939-31910369	PBDE	blood:	n/a	n/a
33	GATA1	chr12:31909719-31910526	K562	blood:	n/a	n/a
34	GATA2	chr12:31909939-31910383	K562	blood:	n/a	n/a
35	GATA2	chr12:31909999-31910283	K562	blood:	n/a	n/a
36	GTF2F1	chr12:31909870-31910203	Hela-S3	cervix:	n/a	n/a
37	HDAC2	chr12:31909885-31910390	K562	blood:	n/a	n/a
38	HDAC2	chr12:31909880-31910454	K562	blood:	n/a	n/a
39	HMGN3	chr12:31909905-31910301	K562	blood:	n/a	n/a
40	IKZF1	chr12:31909943-31910251	GM12878	blood:	n/a	n/a
41	IRF1	chr12:31907337-31907780	K562	blood:	n/a	n/a
42	IRF1	chr12:31907419-31907679	K562	blood:	n/a	n/a
43	JUN	chr12:31909785-31910502	K562	blood:	n/a	n/a
44	JUN	chr12:31909884-31910263	K562	blood:	n/a	n/a
45	JUN	chr12:31909801-31910263	K562	blood:	n/a	n/a
46	JUND	chr12:31909873-31910366	K562	blood:	n/a	chr12:31910084-31910095
47	JUND	chr12:31909899-31910301	Hela-S3	cervix:	n/a	chr12:31910084-31910095
48	JUND	chr12:31909939-31910238	HepG2	liver:	n/a	chr12:31910084-31910095
49	KAP1	chr12:31909930-31910231	HEK293	kidney:	n/a	n/a
50	MAFF	chr12:31909880-31910261	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31880235..31884620-chr12:31906466..31910642,5	K562	blood:
2	chr12:31880356..31882113-chr12:31908651..31911633,2	K562	blood:
3	chr12:31902284..31904041-chr12:31909797..31911614,2	K562	blood:
4	chr12:31901665..31904041-chr12:31908599..31911297,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223722	TF binding region
ENSG00000151743	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4931553	chr12:31907274-31907275	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563988391	chr12:31907282-31907283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140272607	chr12:31907299-31907300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11051565	chr12:31907394-31907395	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs145246164	chr12:31907406-31907407	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374507982	chr12:31907409-31907410	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571220009	chr12:31907469-31907470	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142715618	chr12:31907474-31907475	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547077501	chr12:31907477-31907478	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567154825	chr12:31907481-31907482	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs74353401	chr12:31907518-31907519	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536060934	chr12:31907524-31907525	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551781590	chr12:31907533-31907534	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555903503	chr12:31907534-31907535	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569858202	chr12:31907549-31907550	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10771867	chr12:31907578-31907579	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558727415	chr12:31907643-31907644	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572394283	chr12:31907644-31907645	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs11613702	chr12:31907659-31907660	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs61932090	chr12:31907740-31907741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574952924	chr12:31907741-31907742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112407511	chr12:31907779-31907780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563859404	chr12:31907784-31907785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111771931	chr12:31907798-31907799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111230252	chr12:31907799-31907800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546469363	chr12:31907816-31907817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534201226	chr12:31907865-31907866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564764397	chr12:31907881-31907882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11051567	chr12:31907882-31907883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148572966	chr12:31907897-31907898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549371806	chr12:31907905-31907906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186423431	chr12:31907909-31907910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113726359	chr12:31907929-31907930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549567018	chr12:31908031-31908032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567952636	chr12:31908040-31908041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569828690	chr12:31908041-31908042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs6488005	chr12:31908050-31908051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146646057	chr12:31908078-31908079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565968565	chr12:31908082-31908083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117515074	chr12:31908084-31908085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190553527	chr12:31908124-31908125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556750209	chr12:31908127-31908128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141443123	chr12:31908138-31908139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181990805	chr12:31908160-31908161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187032059	chr12:31908164-31908165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546210026	chr12:31908174-31908175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146787908	chr12:31908237-31908238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191419976	chr12:31908266-31908267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371262621	chr12:31908290-31908291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs74087527	chr12:31908346-31908347	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31901000-31909800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:31902600-31908600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:31902600-31908600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:31902600-31912800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:31903600-31912800	Weak transcription	Gastric	stomach
6	chr12:31903800-31909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:31904000-31909600	Weak transcription	HMEC	breast
8	chr12:31904200-31908400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:31904200-31909600	Weak transcription	Hela-S3	cervix
10	chr12:31904200-31909800	Weak transcription	Small Intestine	intestine
11	chr12:31904200-31909800	Weak transcription	Stomach Mucosa	stomach
12	chr12:31904600-31908400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:31904800-31909800	Weak transcription	HUVEC	blood vessel
14	chr12:31905000-31909800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:31905400-31909800	Weak transcription	Placenta	Placenta
16	chr12:31905400-31912200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:31905400-31912800	Weak transcription	HepG2	liver
18	chr12:31905600-31907800	Weak transcription	Spleen	Spleen
19	chr12:31905600-31908400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:31905600-31908400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:31905600-31908600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:31905600-31909600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:31905600-31909600	Weak transcription	A549	lung
24	chr12:31905600-31909800	Weak transcription	K562	blood
25	chr12:31905800-31908600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:31905800-31908600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:31905800-31909800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:31905800-31909800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:31905800-31910800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:31905800-31912200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:31906400-31912200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:31908000-31908200	Enhancers	Spleen	Spleen
33	chr12:31908200-31909200	Enhancers	GM12878-XiMat	blood
34	chr12:31908400-31908800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:31908400-31908800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:31908600-31908800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:31908600-31908800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:31908600-31908800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:31908600-31908800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:31908600-31908800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:31908600-31909000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:31908600-31909600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr12:31908600-31911000	Enhancers	Fetal Intestine Large	intestine
44	chr12:31908600-31911000	Enhancers	Fetal Intestine Small	intestine
45	chr12:31908800-31910000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:31908800-31910600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:31908800-31912800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:31909200-31909600	Weak transcription	GM12878-XiMat	blood
49	chr12:31909600-31909800	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr12:31909600-31910400	Enhancers	Rectal Mucosa Donor 29	rectum

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