Variant report

Variant	rs11778381
Chromosome Location	chr8:125836386-125836387
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10808541	0.89[CHB][hapmap]
rs11782084	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34880459	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67807124	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7462735	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11778381	TRMT12	cis	parietal	SCAN
rs11778381	ZNF572	cis	parietal	SCAN
rs11778381	MTSS1	cis	cerebellum	SCAN
rs11778381	KLHL38	cis	parietal	SCAN
rs11778381	ANXA13	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125833600-125837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125835200-125836800	Enhancers	K562	blood
3	chr8:125835400-125836400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:125835400-125836400	Enhancers	Fetal Muscle Leg	muscle
5	chr8:125835600-125836400	Enhancers	Psoas Muscle	Psoas
6	chr8:125835600-125836400	Enhancers	Right Atrium	heart
7	chr8:125835600-125836400	Enhancers	Right Ventricle	heart
8	chr8:125835600-125836600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:125835600-125836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:125835800-125836400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:125836000-125837000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:125836200-125836400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:125836200-125836400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:125836200-125836400	Enhancers	Spleen	Spleen
15	chr8:125836200-125836800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:125836200-125837000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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