Variant report

Variant	rs10493187
Chromosome Location	chr1:56320969-56320970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10493183	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493185	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493189	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493190	1.00[ASN][1000 genomes]
rs10493191	1.00[ASN][1000 genomes]
rs10888940	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888942	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888947	1.00[ASN][1000 genomes]
rs10888948	1.00[ASN][1000 genomes]
rs11206673	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206677	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206680	1.00[ASN][1000 genomes]
rs11206681	1.00[ASN][1000 genomes]
rs11206689	1.00[ASN][1000 genomes]
rs11206690	1.00[CHD][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs11582662	1.00[ASN][1000 genomes]
rs12058087	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070494	1.00[ASN][1000 genomes]
rs12092701	1.00[ASN][1000 genomes]
rs12118218	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119904	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120132	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123418	1.00[ASN][1000 genomes]
rs12123610	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124871	1.00[ASN][1000 genomes]
rs12138137	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141873	1.00[ASN][1000 genomes]
rs12145137	1.00[ASN][1000 genomes]
rs17112888	1.00[ASN][1000 genomes]
rs17113073	1.00[ASN][1000 genomes]
rs2067637	1.00[ASN][1000 genomes]
rs41285922	1.00[ASN][1000 genomes]
rs4313435	0.94[AFR][1000 genomes]
rs55693755	1.00[ASN][1000 genomes]
rs58538058	1.00[ASN][1000 genomes]
rs59959484	1.00[ASN][1000 genomes]
rs61774839	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61774843	1.00[ASN][1000 genomes]
rs61777585	1.00[ASN][1000 genomes]
rs61777621	1.00[ASN][1000 genomes]
rs6657176	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6659096	1.00[ASN][1000 genomes]
rs6662998	1.00[CHD][hapmap]
rs6691673	1.00[ASN][1000 genomes]
rs7516605	1.00[ASN][1000 genomes]
rs7517205	1.00[ASN][1000 genomes]
rs7517995	1.00[ASN][1000 genomes]
rs7530878	1.00[ASN][1000 genomes]
rs7540772	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10493187	YIPF1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56310400-56321200	Weak transcription	Psoas Muscle	Psoas
2	chr1:56315000-56323200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:56319400-56321200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:56319600-56321400	Enhancers	Ovary	ovary
5	chr1:56319800-56321400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:56320000-56323200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:56320200-56321400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:56320200-56321600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:56320600-56321000	Enhancers	Osteobl	bone
10	chr1:56320600-56321200	Enhancers	Fetal Stomach	stomach
11	chr1:56320600-56323200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:56320800-56321000	Enhancers	Fetal Lung	lung
13	chr1:56320800-56321200	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:56320800-56322200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:56320800-56322200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:56320800-56325600	Weak transcription	NHDF-Ad	bronchial

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