Variant report

Variant	rs1627133
Chromosome Location	chr15:57090279-57090280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10518876	0.84[ASN][1000 genomes]
rs11071294	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12324492	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1647381	0.87[ASN][1000 genomes]
rs1657928	0.95[ASN][1000 genomes]
rs1657932	0.92[ASN][1000 genomes]
rs1657933	0.94[ASN][1000 genomes]
rs1657941	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1657942	0.92[ASN][1000 genomes]
rs1660965	0.97[ASN][1000 genomes]
rs1660966	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16977078	0.83[ASN][1000 genomes]
rs2113679	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2165460	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247641	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56107629	0.83[ASN][1000 genomes]
rs7175576	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1627133	MYO5C	cis	parietal	SCAN
rs1627133	TCF12	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57086000-57091000	Weak transcription	Left Ventricle	heart
2	chr15:57086800-57091000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr15:57087200-57091000	Weak transcription	Aorta	Aorta
4	chr15:57087200-57096200	Weak transcription	HSMM	muscle
5	chr15:57087600-57090800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr15:57087800-57091000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:57088000-57097800	Weak transcription	Adipose Nuclei	Adipose
8	chr15:57089200-57090400	Enhancers	Fetal Lung	lung
9	chr15:57090200-57090600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:57090200-57090600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:57090200-57090600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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