Variant report

Variant	rs10493183
Chromosome Location	chr1:56333648-56333649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10493185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493187	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493189	0.89[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	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888944	0.82[AFR][1000 genomes]
rs10888947	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10888948	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11206673	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206677	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206680	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11206681	0.80[AMR][1000 genomes];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	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070494	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12092701	1.00[ASN][1000 genomes]
rs12118218	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119904	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120132	0.97[AFR][1000 genomes];1.00[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	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12138137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141873	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12145137	1.00[ASN][1000 genomes]
rs17112888	1.00[ASN][1000 genomes]
rs17113073	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2067637	1.00[ASN][1000 genomes]
rs41285922	1.00[ASN][1000 genomes]
rs4313435	0.96[AFR][1000 genomes]
rs55693755	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58538058	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59959484	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61774839	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61774843	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61777585	1.00[ASN][1000 genomes]
rs61777621	1.00[ASN][1000 genomes]
rs6657176	0.97[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	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7517205	1.00[ASN][1000 genomes]
rs7517995	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7530878	1.00[ASN][1000 genomes]
rs7540772	1.00[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	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
2	nsv947261	chr1:56328792-56335482	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10493183	YIPF1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56326000-56342000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:56331800-56333800	Enhancers	Placenta	Placenta
3	chr1:56331800-56336200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:56332200-56334000	Enhancers	Fetal Intestine Large	intestine
5	chr1:56332400-56339200	Enhancers	NHDF-Ad	bronchial
6	chr1:56332800-56334000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:56333000-56333800	Enhancers	Colon Smooth Muscle	Colon
8	chr1:56333000-56334400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:56333000-56335200	Enhancers	Fetal Kidney	kidney
10	chr1:56333200-56336200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:56333200-56336400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:56333400-56333800	Enhancers	Psoas Muscle	Psoas
13	chr1:56333400-56334000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:56333400-56334600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:56333400-56336600	Enhancers	Osteobl	bone
16	chr1:56333600-56333800	Enhancers	Aorta	Aorta
17	chr1:56333600-56333800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:56333600-56334000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:56333600-56334000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:56333600-56334200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:56333600-56334400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:56333600-56336000	Weak transcription	Fetal Intestine Small	intestine
23	chr1:56333600-56336200	Enhancers	Fetal Heart	heart
24	chr1:56333600-56336400	Enhancers	NHLF	lung

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