Variant report

Variant	rs11048370
Chromosome Location	chr12:26151716-26151717
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]
rs10431215	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459081	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10771249	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10771255	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10842641	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10842642	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10842645	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10842647	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10842648	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10842651	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10842655	0.81[ASN][1000 genomes]
rs11048363	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11048364	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11048367	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11048374	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12227480	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12369462	0.81[ASN][1000 genomes]
rs1874351	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1994995	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2251618	0.81[ASN][1000 genomes]
rs2643933	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2729634	0.81[ASN][1000 genomes]
rs61247260	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6487522	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7315752	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7956992	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963754	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7964657	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7969486	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971906	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7979763	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][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
rs11048370	FKRP	trans	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 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	chr12:26144400-26152200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:26145200-26152600	Enhancers	Osteobl	bone
5	chr12:26145600-26151800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:26145800-26152400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:26145800-26153400	Weak transcription	Right Atrium	heart
9	chr12:26146200-26152200	Enhancers	HSMM	muscle
10	chr12:26146200-26163000	Weak transcription	Lung	lung
11	chr12:26146600-26155600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:26148000-26152200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:26148000-26152200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:26148000-26163600	Weak transcription	Aorta	Aorta
15	chr12:26148200-26155600	Weak transcription	Ovary	ovary
16	chr12:26148200-26157000	Weak transcription	Psoas Muscle	Psoas
17	chr12:26149000-26152600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:26150200-26152200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:26150600-26151800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:26150800-26151800	Enhancers	A549	lung
21	chr12:26150800-26155600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:26150800-26155600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:26150800-26159600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:26150800-26160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:26150800-26163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:26151000-26152600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:26151000-26152800	Weak transcription	HSMMtube	muscle
28	chr12:26151000-26154800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:26151000-26155600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:26151000-26155600	Weak transcription	Fetal Lung	lung
31	chr12:26151000-26155600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:26151000-26155800	Weak transcription	Fetal Heart	heart
33	chr12:26151000-26163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:26151200-26151800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:26151200-26152200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:26151200-26152200	Enhancers	Gastric	stomach
37	chr12:26151200-26152800	Enhancers	HUVEC	blood vessel
38	chr12:26151200-26153200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:26151200-26154600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:26151200-26155600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:26151200-26155600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:26151200-26155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:26151200-26156000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:26151200-26156000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:26151200-26160000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:26151400-26152000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:26151400-26152800	Genic enhancers	NHDF-Ad	bronchial
48	chr12:26151400-26155400	Weak transcription	NHEK	skin
49	chr12:26151400-26156000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:26151400-26160400	Weak transcription	Rectal Smooth Muscle	rectum

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