Variant report

Variant	rs11176992
Chromosome Location	chr12:68375626-68375627
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	POLR2A	chr12:68375476-68375656	SK-N-SH	brain:	n/a	n/a
2	RXRA	chr12:68374892-68376398	SK-N-SH	brain:	n/a	n/a
3	TEAD4	chr12:68374783-68376454	SK-N-SH	brain:	n/a	n/a
4	EP300	chr12:68374942-68376349	SK-N-SH_RA	brain:	n/a	chr12:68376183-68376197
5	JUND	chr12:68374781-68376391	SK-N-SH	brain:	n/a	n/a
6	EP300	chr12:68375015-68375842	SK-N-SH_RA	brain:	n/a	n/a
7	POLR2A	chr12:68374899-68376364	SK-N-SH	brain:	n/a	n/a
8	FOSL1	chr12:68374797-68375907	HCT-116	colon:	n/a	n/a
9	NFIC	chr12:68374747-68376444	SK-N-SH	brain:	n/a	n/a
10	FOXM1	chr12:68374877-68376403	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr12:68374816-68376495	SK-N-SH	brain:	n/a	chr12:68374904-68374920 chr12:68374908-68374917 chr12:68375660-68375668 chr12:68375936-68375943
12	SP1	chr12:68374789-68375687	HCT-116	colon:	n/a	n/a
13	CEBPB	chr12:68374848-68375730	HCT-116	colon:	n/a	n/a
14	MAFK	chr12:68374998-68375722	IMR90	lung:	n/a	n/a
15	FOSL1	chr12:68374845-68375865	HCT-116	colon:	n/a	n/a
16	KAP1	chr12:68374998-68375781	HEK293	kidney:	n/a	n/a
17	EP300	chr12:68374726-68376409	SK-N-SH	brain:	n/a	chr12:68376183-68376197
18	PBX3	chr12:68374756-68376445	SK-N-SH	brain:	n/a	n/a
19	TAF1	chr12:68375485-68375733	SK-N-SH	brain:	n/a	n/a
20	RXRA	chr12:68374892-68376032	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr12:68374665-68376549	SK-N-SH	brain:	n/a	chr12:68374904-68374920 chr12:68374908-68374917 chr12:68375660-68375668 chr12:68375936-68375943
22	JUND	chr12:68374839-68376425	SK-N-SH	brain:	n/a	n/a
23	EP300	chr12:68374766-68376504	SK-N-SH	brain:	n/a	chr12:68376183-68376197
24	TEAD4	chr12:68374786-68376449	SK-N-SH	brain:	n/a	n/a
25	FOXM1	chr12:68374707-68376563	SK-N-SH	brain:	n/a	n/a
26	PBX3	chr12:68374817-68376361	SK-N-SH	brain:	n/a	n/a
27	FOSL2	chr12:68374813-68376431	SK-N-SH	brain:	n/a	n/a
28	GATA2	chr12:68375620-68376300	SH-SY5Y	brain:	n/a	chr12:68375660-68375668 chr12:68375936-68375943
29	MEF2A	chr12:68374838-68375667	SK-N-SH	brain:	n/a	chr12:68375574-68375589
30	CBX3	chr12:68374849-68375968	HCT-116	colon:	n/a	n/a
31	TCF12	chr12:68374718-68376577	SK-N-SH	brain:	n/a	chr12:68374979-68374986
32	TCF12	chr12:68373952-68376612	SK-N-SH	brain:	n/a	chr12:68374979-68374986
33	JUND	chr12:68374796-68375683	HCT-116	colon:	n/a	n/a
34	ZBTB33	chr12:68374891-68375794	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68371732..68373949-chr12:68374658..68377015,2	K562	blood:

Variant related genes	Relation type
ENSG00000256835	TF binding region
ENSG00000256835	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10878706	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10878712	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10878713	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10878715	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878718	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11176948	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11176949	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11176954	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11176959	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11176968	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11176969	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176972	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176978	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11176980	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11176983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176986	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176989	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176991	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176993	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610897	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11613229	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11614985	0.85[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12368120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370235	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12370243	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12422467	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12423203	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12424418	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17104564	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2215071	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2215072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302627	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28843778	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68374600-68375800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:68374600-68376200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:68374800-68376200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:68374800-68376200	Enhancers	NHEK	skin
5	chr12:68374800-68376400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:68374800-68376400	Enhancers	Osteobl	bone
7	chr12:68375000-68375800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:68375000-68375800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:68375000-68375800	Enhancers	HSMMtube	muscle
10	chr12:68375000-68376200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:68375000-68376200	Enhancers	HSMM	muscle
12	chr12:68375000-68376400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:68375000-68376400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:68375000-68376400	Enhancers	HMEC	breast
15	chr12:68375000-68376400	Enhancers	NHLF	lung
16	chr12:68375200-68376200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:68375400-68375800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:68375400-68375800	Enhancers	Hela-S3	cervix
19	chr12:68375400-68375800	Flanking Active TSS	NH-A	brain
20	chr12:68375400-68376200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:68375600-68375800	Flanking Active TSS	NHDF-Ad	bronchial
22	chr12:68375600-68376200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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