Variant report

Variant	rs10431215
Chromosome Location	chr12:26155063-26155064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10459081	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10771249	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10771255	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10842641	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10842642	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10842645	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10842647	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10842648	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10842651	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10842655	0.85[ASN][1000 genomes]
rs11048363	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11048364	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11048367	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11048370	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11048374	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227480	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12369462	0.85[ASN][1000 genomes]
rs1874351	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1994995	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251618	0.85[ASN][1000 genomes]
rs2643933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729634	0.85[ASN][1000 genomes]
rs61247260	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6487522	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7315752	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7956992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7963754	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7964657	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7969486	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971906	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979763	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10431215	FKRP	trans	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
2	chr12:26142200-26155600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:26146200-26163000	Weak transcription	Lung	lung
5	chr12:26146600-26155600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:26148000-26163600	Weak transcription	Aorta	Aorta
7	chr12:26148200-26155600	Weak transcription	Ovary	ovary
8	chr12:26148200-26157000	Weak transcription	Psoas Muscle	Psoas
9	chr12:26150800-26155600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:26150800-26155600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:26150800-26159600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:26150800-26160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:26150800-26163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:26151000-26155600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:26151000-26155600	Weak transcription	Fetal Lung	lung
16	chr12:26151000-26155600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:26151000-26155800	Weak transcription	Fetal Heart	heart
18	chr12:26151000-26163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:26151200-26155600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:26151200-26155600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:26151200-26155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:26151200-26156000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:26151200-26156000	Weak transcription	Brain Anterior Caudate	brain
24	chr12:26151200-26160000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:26151400-26155400	Weak transcription	NHEK	skin
26	chr12:26151400-26156000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:26151400-26160400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:26151400-26162000	Weak transcription	Hela-S3	cervix
29	chr12:26151600-26155600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:26151600-26155600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:26151600-26155600	Weak transcription	NH-A	brain
32	chr12:26152200-26155600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:26152200-26156000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:26152200-26162800	Weak transcription	HSMM	muscle
35	chr12:26152600-26156200	Weak transcription	Osteobl	bone
36	chr12:26152800-26155600	Weak transcription	HUVEC	blood vessel
37	chr12:26152800-26157400	Strong transcription	NHDF-Ad	bronchial
38	chr12:26153200-26155600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:26153200-26156000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:26153800-26156000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:26154000-26155600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:26154400-26155600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:26154400-26156600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:26154600-26155800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:26154600-26156600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:26154800-26156400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:26154800-26156400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:26154800-26157400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:26154800-26157800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:26154800-26163400	Weak transcription	HSMMtube	muscle

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