Variant report

Variant	rs17091317
Chromosome Location	chr12:42899897-42899898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10506209	1.00[CEU][hapmap]
rs11835687	0.95[ASN][1000 genomes]
rs12822377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[ASN][1000 genomes]
rs2924131	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs55963571	0.91[ASN][1000 genomes]
rs56275096	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57295424	0.81[ASN][1000 genomes]
rs58031337	0.95[ASN][1000 genomes]
rs58858778	0.94[ASN][1000 genomes]
rs60593679	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73277814	0.93[ASN][1000 genomes]
rs7956361	0.81[AMR][1000 genomes];0.86[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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42878600-42904800	Weak transcription	Right Atrium	heart
2	chr12:42878800-42902000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:42879000-42901000	Weak transcription	HSMM	muscle
4	chr12:42885400-42913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:42886800-42904800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:42889800-42902800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:42890600-42905800	Weak transcription	Osteobl	bone
8	chr12:42891000-42910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:42893000-42901800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:42898400-42914000	Weak transcription	NH-A	brain
11	chr12:42898400-42929000	Weak transcription	Fetal Kidney	kidney
12	chr12:42898600-42900800	Weak transcription	HSMMtube	muscle
13	chr12:42898600-42901200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:42898600-42901200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:42898600-42902400	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:42898600-42904400	Weak transcription	HUVEC	blood vessel
17	chr12:42898600-42910400	Weak transcription	Fetal Stomach	stomach
18	chr12:42899000-42900800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:42899000-42910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:42899400-42900600	Weak transcription	Fetal Heart	heart

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