Variant report

Variant	rs11836915
Chromosome Location	chr12:46912752-46912753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46912402..46915807-chr12:46917000..46920176,3	MCF-7	breast:
2	chr12:46908061..46910450-chr12:46912545..46914352,2	K562	blood:
3	chr12:46912625..46916029-chr12:46919758..46923382,3	K562	blood:
4	chr12:46764738..46768711-chr12:46912622..46917783,6	MCF-7	breast:
5	chr12:46764341..46767091-chr12:46912635..46915718,3	K562	blood:
6	chr12:46912707..46915365-chr12:46917310..46918861,2	K562	blood:
7	chr12:46912293..46914214-chr12:46916250..46918068,2	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10785631	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10880975	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10880976	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs10880977	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs10880980	1.00[EUR][1000 genomes]
rs11183464	1.00[CEU][hapmap];0.93[CHD][hapmap];0.85[TSI][hapmap]
rs11183497	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs11183507	0.85[EUR][1000 genomes]
rs11183524	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11183536	0.88[EUR][1000 genomes]
rs11183539	0.81[EUR][1000 genomes]
rs11183547	0.81[EUR][1000 genomes]
rs11183550	0.81[EUR][1000 genomes]
rs11504523	0.85[EUR][1000 genomes]
rs11829502	1.00[CEU][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11830099	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11830501	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11831177	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11831920	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11831929	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11832316	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11833393	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11834607	0.88[EUR][1000 genomes]
rs11835517	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11835974	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11836940	1.00[CEU][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11837104	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12300125	1.00[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs12305921	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs12578813	0.85[EUR][1000 genomes]
rs12579089	0.85[EUR][1000 genomes]
rs12579348	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12579976	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12580092	0.83[EUR][1000 genomes]
rs12580121	1.00[CEU][hapmap]
rs12580356	0.85[EUR][1000 genomes]
rs12580488	0.82[EUR][1000 genomes]
rs12581311	0.82[EUR][1000 genomes]
rs12581366	0.85[EUR][1000 genomes]
rs12582013	0.82[EUR][1000 genomes]
rs12582056	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12582476	0.85[EUR][1000 genomes]
rs17096991	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17096995	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17097002	1.00[CEU][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17097009	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17097022	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17121410	0.87[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17121412	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17594275	0.82[EUR][1000 genomes]
rs17611638	0.85[EUR][1000 genomes]
rs1946175	0.88[EUR][1000 genomes]
rs2042058	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2193663	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2216439	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs235601	0.81[EUR][1000 genomes]
rs235602	0.81[EUR][1000 genomes]
rs235607	1.00[CEU][hapmap]
rs235610	0.81[EUR][1000 genomes]
rs235617	1.00[CEU][hapmap]
rs235621	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs235622	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs235626	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs2408576	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2408577	0.88[EUR][1000 genomes]
rs2430937	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2430939	0.88[EUR][1000 genomes]
rs2430940	1.00[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs2430941	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2430942	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2430943	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2430946	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2430947	1.00[CEU][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2471581	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2471583	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[EUR][1000 genomes]
rs2471588	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2471594	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2471601	0.88[EUR][1000 genomes]
rs2471602	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2471605	0.94[ASW][hapmap];1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2471608	1.00[CEU][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2471617	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2471618	0.88[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28768973	0.88[EUR][1000 genomes]
rs2897969	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2909411	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2960450	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4073924	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4604970	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768125	0.80[EUR][1000 genomes]
rs4768731	0.82[EUR][1000 genomes]
rs4768741	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs4768744	1.00[CEU][hapmap]
rs56152575	0.93[EUR][1000 genomes]
rs56181923	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56271434	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56399247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57158113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57439008	0.85[EUR][1000 genomes]
rs57658610	0.88[EUR][1000 genomes]
rs58449317	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58503088	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58813899	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59521025	0.85[EUR][1000 genomes]
rs59903937	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60191997	0.88[EUR][1000 genomes]
rs60432604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60669661	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60681792	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61072098	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61355826	0.88[EUR][1000 genomes]
rs6582666	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7138914	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7295471	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7302876	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7308386	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7310326	1.00[CEU][hapmap];0.92[YRI][hapmap];0.88[EUR][1000 genomes]
rs73290364	0.81[EUR][1000 genomes]
rs73290381	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73290402	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73291964	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73291976	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73291980	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73292000	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73292001	0.88[EUR][1000 genomes]
rs73293911	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73293919	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74085431	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7488464	0.88[EUR][1000 genomes]
rs765707	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs766794	0.85[EUR][1000 genomes]
rs7976710	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9669050	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs977069	1.00[CEU][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs9783500	0.85[EUR][1000 genomes]
rs9971651	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46903400-46917800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:46905400-46915800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:46908000-46917400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:46908400-46914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46909400-46916000	Enhancers	Ovary	ovary
6	chr12:46909600-46916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:46910000-46915800	Weak transcription	HUVEC	blood vessel
8	chr12:46910200-46915000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:46910400-46913000	Flanking Active TSS	GM12878-XiMat	blood
10	chr12:46910400-46913600	Enhancers	Fetal Stomach	stomach
11	chr12:46910400-46914800	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:46910600-46914600	Weak transcription	Fetal Heart	heart
13	chr12:46910800-46913600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:46910800-46914800	Weak transcription	Placenta	Placenta
15	chr12:46910800-46915600	Weak transcription	A549	lung
16	chr12:46910800-46918000	Weak transcription	Psoas Muscle	Psoas
17	chr12:46910800-46920000	Enhancers	Fetal Lung	lung
18	chr12:46911000-46914800	Weak transcription	Spleen	Spleen
19	chr12:46911000-46915000	Weak transcription	Right Ventricle	heart
20	chr12:46911000-46917000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:46911000-46917000	Weak transcription	Lung	lung
22	chr12:46911000-46917200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:46911200-46913200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:46911200-46913200	Weak transcription	Right Atrium	heart
25	chr12:46911200-46913400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:46911200-46913400	Enhancers	Colon Smooth Muscle	Colon
27	chr12:46911200-46913800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:46911200-46914400	Weak transcription	K562	blood
29	chr12:46911200-46914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:46911200-46915000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:46911200-46915000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:46911200-46915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:46911200-46917200	Weak transcription	Left Ventricle	heart
34	chr12:46911200-46917200	Weak transcription	Thymus	Thymus
35	chr12:46911200-46918000	Weak transcription	Pancreas	Pancrea
36	chr12:46911400-46915000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:46911400-46917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:46911400-46917200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:46911400-46917200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:46911600-46912800	Enhancers	NHLF	lung
41	chr12:46911600-46913000	Enhancers	NHDF-Ad	bronchial
42	chr12:46911600-46913400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:46911600-46913400	Enhancers	Osteobl	bone
44	chr12:46911600-46913800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:46911600-46915000	Weak transcription	HSMM	muscle
46	chr12:46911600-46915800	Weak transcription	NHEK	skin
47	chr12:46911600-46916400	Weak transcription	Dnd41	blood
48	chr12:46911600-46916800	Weak transcription	Fetal Thymus	thymus
49	chr12:46911600-46922800	Weak transcription	Primary B cells from cord blood	blood
50	chr12:46911800-46912800	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links