Variant report

Variant	rs57158113
Chromosome Location	chr12:46913791-46913792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46764341..46766559-chr12:46913198..46915758,3	K562	blood:
2	chr12:46912402..46915807-chr12:46917000..46920176,3	MCF-7	breast:
3	chr12:46908061..46910450-chr12:46912545..46914352,2	K562	blood:
4	chr12:46912625..46916029-chr12:46919758..46923382,3	K562	blood:
5	chr12:46764738..46768711-chr12:46912622..46917783,6	MCF-7	breast:
6	chr12:46764341..46767091-chr12:46912635..46915718,3	K562	blood:
7	chr12:46912707..46915365-chr12:46917310..46918861,2	K562	blood:
8	chr12:46912293..46914214-chr12:46916250..46918068,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10785631	0.85[EUR][1000 genomes]
rs10880975	0.85[EUR][1000 genomes]
rs10880976	0.85[EUR][1000 genomes]
rs10880977	0.85[EUR][1000 genomes]
rs10880980	1.00[EUR][1000 genomes]
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	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	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11831920	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11831929	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]
rs11836915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11836940	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	0.88[EUR][1000 genomes]
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]
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	0.81[EUR][1000 genomes]
rs12582476	0.85[EUR][1000 genomes]
rs17096991	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17096995	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17097002	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17097009	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17097022	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17121410	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17121412	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	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]
rs235610	0.81[EUR][1000 genomes]
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	0.88[EUR][1000 genomes]
rs2430941	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2430942	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2430943	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2430946	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2430947	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[EUR][1000 genomes]
rs2471588	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2471594	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2471601	0.88[EUR][1000 genomes]
rs2471602	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2471605	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2471608	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2471617	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2471618	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	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]
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]
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	0.85[EUR][1000 genomes]
rs7138914	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7295471	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	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	0.80[EUR][1000 genomes]
rs9783500	0.85[EUR][1000 genomes]

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:74 , 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	chr12:46910400-46914800	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:46910600-46914600	Weak transcription	Fetal Heart	heart
11	chr12:46910800-46914800	Weak transcription	Placenta	Placenta
12	chr12:46910800-46915600	Weak transcription	A549	lung
13	chr12:46910800-46918000	Weak transcription	Psoas Muscle	Psoas
14	chr12:46910800-46920000	Enhancers	Fetal Lung	lung
15	chr12:46911000-46914800	Weak transcription	Spleen	Spleen
16	chr12:46911000-46915000	Weak transcription	Right Ventricle	heart
17	chr12:46911000-46917000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:46911000-46917000	Weak transcription	Lung	lung
19	chr12:46911000-46917200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:46911200-46913800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:46911200-46914400	Weak transcription	K562	blood
22	chr12:46911200-46914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:46911200-46915000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:46911200-46915000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:46911200-46915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:46911200-46917200	Weak transcription	Left Ventricle	heart
27	chr12:46911200-46917200	Weak transcription	Thymus	Thymus
28	chr12:46911200-46918000	Weak transcription	Pancreas	Pancrea
29	chr12:46911400-46915000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:46911400-46917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:46911400-46917200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:46911400-46917200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:46911600-46913800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:46911600-46915000	Weak transcription	HSMM	muscle
35	chr12:46911600-46915800	Weak transcription	NHEK	skin
36	chr12:46911600-46916400	Weak transcription	Dnd41	blood
37	chr12:46911600-46916800	Weak transcription	Fetal Thymus	thymus
38	chr12:46911600-46922800	Weak transcription	Primary B cells from cord blood	blood
39	chr12:46911800-46916400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:46911800-46916600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:46911800-46917200	Weak transcription	Fetal Intestine Small	intestine
42	chr12:46911800-46921800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:46912000-46917200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:46912000-46917200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:46912200-46914600	Weak transcription	Small Intestine	intestine
46	chr12:46912200-46914800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:46912400-46916800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:46912400-46916800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:46912400-46917200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:46912600-46913800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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