Variant report

Variant	rs12317112
Chromosome Location	chr12:46912152-46912153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11183535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11183558	1.00[AMR][1000 genomes]
rs11504525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297833	1.00[AMR][1000 genomes]
rs12298909	1.00[AMR][1000 genomes]
rs12304575	1.00[AMR][1000 genomes]
rs12304806	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304865	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305992	1.00[AMR][1000 genomes]
rs12307390	1.00[AMR][1000 genomes]
rs12315001	1.00[AMR][1000 genomes]
rs12316510	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318411	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320033	1.00[AMR][1000 genomes]
rs60258688	1.00[AMR][1000 genomes]
rs73282116	1.00[AMR][1000 genomes]
rs73293966	1.00[AMR][1000 genomes]
rs73293979	1.00[AMR][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:73 , 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	chr12:46906200-46912400	Weak transcription	Fetal Kidney	kidney
4	chr12:46908000-46917400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:46908400-46914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:46909200-46912400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:46909400-46916000	Enhancers	Ovary	ovary
8	chr12:46909600-46912600	Enhancers	HepG2	liver
9	chr12:46909600-46916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:46910000-46915800	Weak transcription	HUVEC	blood vessel
11	chr12:46910200-46915000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:46910400-46912200	Enhancers	Primary T cells from cord blood	blood
13	chr12:46910400-46913000	Flanking Active TSS	GM12878-XiMat	blood
14	chr12:46910400-46913600	Enhancers	Fetal Stomach	stomach
15	chr12:46910400-46914800	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:46910600-46912200	Enhancers	Stomach Smooth Muscle	stomach
17	chr12:46910600-46912400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:46910600-46914600	Weak transcription	Fetal Heart	heart
19	chr12:46910800-46913600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:46910800-46914800	Weak transcription	Placenta	Placenta
21	chr12:46910800-46915600	Weak transcription	A549	lung
22	chr12:46910800-46918000	Weak transcription	Psoas Muscle	Psoas
23	chr12:46910800-46920000	Enhancers	Fetal Lung	lung
24	chr12:46911000-46912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:46911000-46912200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:46911000-46912200	Enhancers	Small Intestine	intestine
27	chr12:46911000-46914800	Weak transcription	Spleen	Spleen
28	chr12:46911000-46915000	Weak transcription	Right Ventricle	heart
29	chr12:46911000-46917000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:46911000-46917000	Weak transcription	Lung	lung
31	chr12:46911000-46917200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:46911200-46912600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:46911200-46912600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:46911200-46913200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:46911200-46913200	Weak transcription	Right Atrium	heart
36	chr12:46911200-46913400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:46911200-46913400	Enhancers	Colon Smooth Muscle	Colon
38	chr12:46911200-46913800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:46911200-46914400	Weak transcription	K562	blood
40	chr12:46911200-46914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:46911200-46915000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:46911200-46915000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:46911200-46915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:46911200-46917200	Weak transcription	Left Ventricle	heart
45	chr12:46911200-46917200	Weak transcription	Thymus	Thymus
46	chr12:46911200-46918000	Weak transcription	Pancreas	Pancrea
47	chr12:46911400-46912400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr12:46911400-46915000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:46911400-46917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:46911400-46917200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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