Variant report

Variant	rs11051556
Chromosome Location	chr12:31901852-31901853
allele	C/T
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	BCLAF1	chr12:31901791-31902693	GM12878	blood:	n/a	n/a
2	SP1	chr12:31901798-31902638	GM12878	blood:	n/a	n/a
3	JUN	chr12:31901696-31902766	K562	blood:	n/a	n/a
4	FOSL1	chr12:31901824-31902700	HCT-116	colon:	n/a	chr12:31902260-31902271
5	FOXM1	chr12:31901764-31902650	GM12878	blood:	n/a	n/a
6	CEBPB	chr12:31901700-31902797	GM12878	blood:	n/a	chr12:31902482-31902490 chr12:31901802-31901815 chr12:31901799-31901816 chr12:31902400-31902411 chr12:31901804-31901815
7	CREB1	chr12:31901840-31902695	GM12878	blood:	n/a	n/a
8	RELA	chr12:31901814-31902671	GM12878	blood:	n/a	n/a
9	CBX3	chr12:31901792-31902765	HCT-116	colon:	n/a	n/a
10	MAX	chr12:31901797-31902757	HCT-116	colon:	n/a	n/a
11	NFIC	chr12:31901710-31902782	GM12878	blood:	n/a	n/a
12	CBX3	chr12:31901830-31902608	K562	blood:	n/a	n/a
13	EP300	chr12:31901774-31902825	A549	lung:	n/a	chr12:31902462-31902472
14	NFATC1	chr12:31901758-31902647	GM12878	blood:	n/a	n/a
15	EP300	chr12:31901851-31902680	K562	blood:	n/a	chr12:31902462-31902472
16	BCL3	chr12:31901804-31902807	A549	lung:	n/a	n/a
17	GATA3	chr12:31901742-31902691	SK-N-SH	brain:	n/a	chr12:31901880-31901889 chr12:31901873-31901894
18	TCF12	chr12:31901823-31902692	MCF-7	breast:	n/a	n/a
19	MTA3	chr12:31901829-31902735	GM12878	blood:	n/a	n/a
20	BATF	chr12:31901846-31902653	GM12878	blood:	n/a	chr12:31902262-31902273
21	NFIC	chr12:31901847-31902904	ECC-1	luminal epithelium:	n/a	n/a
22	TRIM28	chr12:31901848-31902704	K562	blood:	n/a	n/a
23	CEBPB	chr12:31901805-31902769	HCT-116	colon:	n/a	chr12:31902482-31902490 chr12:31902400-31902411
24	MAFK	chr12:31901777-31902646	Hela-S3	cervix:	n/a	chr12:31902255-31902270
25	SETDB1	chr12:31901753-31902692	U2OS	brain:	n/a	n/a
26	RELA	chr12:31901840-31902648	GM18951	blood:	n/a	n/a
27	SP1	chr12:31901729-31902864	HCT-116	colon:	n/a	n/a
28	MTA3	chr12:31901798-31902755	GM12878	blood:	n/a	n/a
29	USF1	chr12:31901822-31902657	A549	lung:	n/a	n/a
30	SRF	chr12:31901789-31902709	HCT-116	colon:	n/a	n/a
31	RAD21	chr12:31901818-31902701	ECC-1	luminal epithelium:	n/a	n/a
32	RAD21	chr12:31901743-31902763	HCT-116	colon:	n/a	n/a
33	JUND	chr12:31901770-31902597	SK-N-SH	brain:	n/a	chr12:31902260-31902271
34	SP1	chr12:31901773-31902821	A549	lung:	n/a	n/a
35	CEBPB	chr12:31901800-31902694	A549	lung:	n/a	chr12:31902482-31902490 chr12:31901802-31901815 chr12:31902400-31902411 chr12:31901804-31901815
36	POLR2A	chr12:31901771-31902601	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr12:31901763-31902710	HCT-116	colon:	n/a	chr12:31902260-31902271
38	KAP1	chr12:31901839-31902698	U2OS	brain:	n/a	n/a
39	RUNX3	chr12:31901812-31902671	GM12878	blood:	n/a	n/a
40	FOSL1	chr12:31901762-31902766	HCT-116	colon:	n/a	chr12:31902260-31902271
41	SP1	chr12:31901730-31902883	HCT-116	colon:	n/a	n/a
42	EP300	chr12:31901664-31902971	ECC-1	luminal epithelium:	n/a	chr12:31902462-31902472
43	RUNX3	chr12:31901737-31902722	GM12878	blood:	n/a	n/a
44	ATF2	chr12:31901758-31902687	GM12878	blood:	n/a	n/a
45	CEBPB	chr12:31901788-31902679	K562	blood:	n/a	chr12:31902482-31902490 chr12:31901802-31901815 chr12:31901799-31901816 chr12:31902400-31902411 chr12:31901804-31901815
46	ATF3	chr12:31901829-31902705	HCT-116	colon:	n/a	n/a
47	TCF12	chr12:31901721-31902948	ECC-1	luminal epithelium:	n/a	n/a
48	CBX3	chr12:31901600-31902692	K562	blood:	n/a	n/a
49	NFIC	chr12:31901705-31902686	GM12878	blood:	n/a	n/a
50	TEAD4	chr12:31901821-31902703	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31897495..31899611-chr12:31901750..31904156,2	MCF-7	breast:
2	chr12:31866804..31870237-chr12:31900678..31903673,4	K562	blood:
3	chr12:31867508..31869786-chr12:31900848..31903323,2	K562	blood:
4	chr12:31901665..31904041-chr12:31908599..31911297,2	K562	blood:
5	chr12:31880350..31888706-chr12:31898122..31903847,15	K562	blood:

Variant related genes	Relation type
ENSG00000256843	TF binding region
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11051558	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051560	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051561	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051562	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051565	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11611575	0.89[EUR][1000 genomes]
rs11613702	0.83[EUR][1000 genomes]
rs12320166	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34841509	0.87[EUR][1000 genomes]
rs36117515	0.89[EUR][1000 genomes]
rs4931552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931555	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307184	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73090346	0.85[EUR][1000 genomes]
rs73090395	0.97[EUR][1000 genomes]
rs7312417	0.97[EUR][1000 genomes]
rs7954012	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954275	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7964078	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964389	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv1050448	chr12:31877289-31927006	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv558102	chr12:31889824-31907409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv975473	chr12:31895430-31908180	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv8940	chr12:31899904-31987363	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv442261	chr12:31900550-31909906	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2421936	chr12:31900550-31909908	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv2760910	chr12:31900550-31909908	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv558103	chr12:31900550-31909908	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv558104	chr12:31900550-31910908	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv558105	chr12:31900550-31912588	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv558106	chr12:31900550-31914143	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv558107	chr12:31900550-31919188	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

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	chr12:31894400-31903400	Weak transcription	Spleen	Spleen
4	chr12:31895800-31902000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:31896200-31903600	Weak transcription	Fetal Kidney	kidney
6	chr12:31896200-31903600	Weak transcription	Small Intestine	intestine
7	chr12:31896400-31902000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:31897600-31902400	Enhancers	Hela-S3	cervix
9	chr12:31899400-31903600	Weak transcription	Lung	lung
10	chr12:31899600-31905200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:31899800-31902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:31900000-31902000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr12:31900000-31902000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:31900000-31902000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:31900000-31902000	Weak transcription	Liver	Liver
16	chr12:31900000-31902000	Weak transcription	HSMM	muscle
17	chr12:31900000-31902000	Weak transcription	NHLF	lung
18	chr12:31900000-31902200	Weak transcription	Thymus	Thymus
19	chr12:31900000-31903200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:31900000-31903400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:31900000-31903600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:31900000-31905200	Weak transcription	Primary T cells from cord blood	blood
23	chr12:31900000-31905800	Enhancers	Primary B cells from cord blood	blood
24	chr12:31900000-31906400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:31900200-31902000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:31900200-31902000	Weak transcription	NHDF-Ad	bronchial
27	chr12:31900200-31903400	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr12:31900400-31902000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:31900400-31902000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:31900400-31902000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:31900600-31902000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:31900600-31902000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:31900600-31902000	Weak transcription	Osteobl	bone
34	chr12:31900800-31902000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:31900800-31902000	Enhancers	K562	blood
36	chr12:31900800-31902600	ZNF genes & repeats	Placenta	Placenta
37	chr12:31901000-31902000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:31901000-31902000	Enhancers	GM12878-XiMat	blood
39	chr12:31901000-31903600	Weak transcription	Colonic Mucosa	Colon
40	chr12:31901000-31909800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:31901200-31902200	Enhancers	NHEK	skin
42	chr12:31901200-31903000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:31901400-31904400	Enhancers	HepG2	liver
44	chr12:31901600-31902000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr12:31901600-31902200	Enhancers	HMEC	breast
46	chr12:31901600-31902800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:31901600-31903600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:31901800-31902000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:31901800-31902000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr12:31901800-31902000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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