Variant report

Variant	esv3327147
Chromosome Location	chr12:31905485-31913483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 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	chr12:31909974-31910231	HepG2	liver:	n/a	n/a
2	ATF1	chr12:31910164-31910364	K562	blood:	n/a	n/a
3	ATF3	chr12:31909916-31910330	K562	blood:	n/a	n/a
4	BATF	chr12:31911249-31911568	GM12878	blood:	n/a	chr12:31911426-31911437 chr12:31911370-31911381
5	BHLHE40	chr12:31910013-31910250	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:31905586-31905714	GM12878	blood:	n/a	n/a
7	BHLHE40	chr12:31909902-31910373	K562	blood:	n/a	n/a
8	CBX3	chr12:31911178-31911673	HCT-116	colon:	n/a	n/a
9	CBX3	chr12:31909939-31910274	K562	blood:	n/a	n/a
10	CCNT2	chr12:31909897-31910312	K562	blood:	n/a	n/a
11	CEBPB	chr12:31909759-31910308	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr12:31910003-31910337	K562	blood:	n/a	n/a
13	CEBPB	chr12:31909882-31910292	Hela-S3	cervix:	n/a	n/a
14	CEBPD	chr12:31909944-31910464	K562	blood:	n/a	n/a
15	CEBPD	chr12:31909935-31910418	K562	blood:	n/a	n/a
16	CHD1	chr12:31909867-31909939	GM12878	blood:	n/a	n/a
17	CHD1	chr12:31908725-31908765	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr12:31905006-31905711	GM12878	blood:	n/a	n/a
19	CHD2	chr12:31909894-31910240	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr12:31909937-31910197	GM12878	blood:	n/a	n/a
21	CUX1	chr12:31912852-31913016	K562	blood:	n/a	n/a
22	CUX1	chr12:31905302-31905839	GM12878	blood:	n/a	n/a
23	E2F4	chr12:31911350-31911662	MCF10A-Er-Src	breast:	n/a	n/a
24	EBF1	chr12:31905259-31905832	GM12878	blood:	n/a	n/a
25	EBF1	chr12:31909871-31910215	GM12878	blood:	n/a	n/a
26	ELK1	chr12:31906093-31906094	GM12878	blood:	n/a	n/a
27	EP300	chr12:31905474-31905761	K562	blood:	n/a	n/a
28	EP300	chr12:31905520-31905835	GM12878	blood:	n/a	n/a
29	EP300	chr12:31909876-31910350	K562	blood:	n/a	n/a
30	EP300	chr12:31909938-31910378	HepG2	liver:	n/a	n/a
31	EP300	chr12:31909621-31910599	ECC-1	luminal epithelium:	n/a	n/a
32	EP300	chr12:31909764-31910397	ECC-1	luminal epithelium:	n/a	n/a
33	EP300	chr12:31910040-31910050	GM12878	blood:	n/a	n/a
34	EP300	chr12:31912696-31913093	GM12878	blood:	n/a	chr12:31912804-31912818 chr12:31912946-31912956 chr12:31912871-31912885
35	EP300	chr12:31909947-31910259	Hela-S3	cervix:	n/a	n/a
36	ESR1	chr12:31912890-31913320	T-47D	breast:	n/a	n/a
37	ESR1	chr12:31912845-31913310	T-47D	breast:	n/a	n/a
38	ESR1	chr12:31912871-31913230	T-47D	breast:	n/a	n/a
39	ESR1	chr12:31912829-31913371	T-47D	breast:	n/a	n/a
40	ESRRA	chr12:31902945-31906220	GM12878	blood:	n/a	chr12:31905114-31905124 chr12:31905112-31905124 chr12:31905112-31905125 chr12:31905114-31905124
41	FOS	chr12:31911230-31911624	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr12:31909933-31910230	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr12:31909935-31910239	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr12:31909932-31910232	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr12:31911207-31911650	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr12:31911225-31911580	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr12:31911229-31911640	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr12:31909931-31910254	MCF10A-Er-Src	breast:	n/a	n/a
49	FOSL1	chr12:31911212-31911680	HCT-116	colon:	n/a	n/a
50	FOSL1	chr12:31911127-31911578	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:31880356..31882113-chr12:31908651..31911633,2	K562	blood:
2	chr12:31880235..31884620-chr12:31906466..31910642,5	K562	blood:
3	chr12:31901665..31904041-chr12:31908599..31911297,2	K562	blood:
4	chr12:31902284..31904041-chr12:31909797..31911614,2	K562	blood:
5	chr12:31900170..31902250-chr12:31904037..31906770,3	MCF-7	breast:
6	chr12:31906089..31908319-chr12:31910376..31912978,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-H3F3C-1	chr12:31906082-31906270	XLOC_010043

No data

Variant related genes	Relation type
ENSG00000223722	TF binding region
ENSG00000256843	TF binding region
ENSG00000223722	chromatin interactions
ENSG00000256843	chromatin interactions
ENSG00000151743	chromatin interactions
MEOX2	miRNA target sites

Extended variants
information (count: 305 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34831980	chr12:31905572-31905573	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112306317	chr12:31905643-31905644	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs117737227	chr12:31905656-31905657	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192967455	chr12:31905716-31905717	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540549208	chr12:31905719-31905720	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs12813695	chr12:31905730-31905731	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs573565516	chr12:31905740-31905741	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200076309	chr12:31905761-31905762	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374647170	chr12:31905777-31905778	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs201186123	chr12:31905813-31905814	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs61026852	chr12:31905814-31905815	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201454831	chr12:31905823-31905824	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201997560	chr12:31905833-31905834	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542623052	chr12:31905834-31905835	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145046446	chr12:31905851-31905852	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7307184	chr12:31905861-31905862	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551577618	chr12:31905867-31905868	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs74360752	chr12:31905885-31905886	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142063992	chr12:31905954-31905955	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112769313	chr12:31905978-31905979	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs111530009	chr12:31906003-31906004	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536904265	chr12:31906072-31906073	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs185189805	chr12:31906079-31906080	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs115784042	chr12:31906145-31906146	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs537986680	chr12:31906175-31906176	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs563766640	chr12:31906190-31906191	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs113009042	chr12:31906263-31906264	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs577639582	chr12:31906317-31906318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189867240	chr12:31906318-31906319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144365358	chr12:31906345-31906346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377453644	chr12:31906348-31906349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112522434	chr12:31906351-31906352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4931555	chr12:31906378-31906379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542512316	chr12:31906431-31906432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35243996	chr12:31906437-31906438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112422171	chr12:31906438-31906439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576016410	chr12:31906445-31906446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370893399	chr12:31906475-31906476	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs137958652	chr12:31906481-31906482	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs545509808	chr12:31906491-31906492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs565255185	chr12:31906554-31906555	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192939342	chr12:31906638-31906639	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs10844004	chr12:31906672-31906673	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs4931554	chr12:31906715-31906716	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530464231	chr12:31906789-31906790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550486262	chr12:31906790-31906791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568905855	chr12:31906792-31906793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531230306	chr12:31906864-31906865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551323372	chr12:31906874-31906875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538190538	chr12:31906901-31906902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31889400-31905800	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:31893600-31905800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:31900000-31905800	Enhancers	Primary B cells from cord blood	blood
4	chr12:31900000-31906400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:31901000-31909800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:31901800-31905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:31901800-31905800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:31902600-31906400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:31902600-31908600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:31902600-31908600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:31902600-31912800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:31903200-31905600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:31903200-31905600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:31903400-31905600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr12:31903400-31905600	Enhancers	Spleen	Spleen
16	chr12:31903600-31912800	Weak transcription	Gastric	stomach
17	chr12:31903800-31905800	Weak transcription	Right Atrium	heart
18	chr12:31903800-31909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:31904000-31905600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:31904000-31909600	Weak transcription	HMEC	breast
21	chr12:31904200-31908400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:31904200-31909600	Weak transcription	Hela-S3	cervix
23	chr12:31904200-31909800	Weak transcription	Small Intestine	intestine
24	chr12:31904200-31909800	Weak transcription	Stomach Mucosa	stomach
25	chr12:31904400-31905800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:31904400-31905800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:31904600-31905600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:31904600-31905600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr12:31904600-31908400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:31904800-31905600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:31904800-31905600	Enhancers	Fetal Thymus	thymus
32	chr12:31904800-31905600	Enhancers	A549	lung
33	chr12:31904800-31905600	Flanking Active TSS	Dnd41	blood
34	chr12:31904800-31905600	Enhancers	K562	blood
35	chr12:31904800-31909800	Weak transcription	HUVEC	blood vessel
36	chr12:31905000-31905600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:31905000-31905600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:31905000-31905600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr12:31905000-31905600	Flanking Active TSS	GM12878-XiMat	blood
40	chr12:31905000-31909800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:31905200-31905600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:31905200-31905600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:31905200-31905600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:31905200-31905600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:31905200-31905800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr12:31905200-31905800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:31905200-31905800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:31905200-31905800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:31905200-31905800	Enhancers	HSMMtube	muscle
50	chr12:31905400-31905600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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