Variant report

Variant	rs2081087
Chromosome Location	chr5:57522451-57522452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1035475	1.00[CEU][hapmap]
rs10472035	1.00[CEU][hapmap]
rs10472036	1.00[CEU][hapmap]
rs10513142	0.81[AFR][1000 genomes]
rs13159047	1.00[YRI][hapmap]
rs13168414	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs1469090	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1473200	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs151868	1.00[AFR][1000 genomes]
rs152010	1.00[YRI][hapmap]
rs154670	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs154671	1.00[AFR][1000 genomes]
rs154673	1.00[AFR][1000 genomes]
rs17709103	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs181745	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1981838	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2052547	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2081086	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2194195	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2216678	0.84[AFR][1000 genomes]
rs2216679	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2216685	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2434584	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs245282	1.00[AFR][1000 genomes]
rs245285	1.00[ASW][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs245287	1.00[AFR][1000 genomes]
rs245295	1.00[AFR][1000 genomes]
rs245296	0.84[AFR][1000 genomes]
rs245493	0.81[LWK][hapmap];1.00[YRI][hapmap]
rs246114	0.84[AFR][1000 genomes]
rs27210	0.81[AFR][1000 genomes]
rs27211	0.81[AFR][1000 genomes]
rs27840	0.81[AFR][1000 genomes]
rs2910569	1.00[CEU][hapmap]
rs2910573	1.00[YRI][hapmap]
rs2910577	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2910592	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2910593	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2910594	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2910600	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2910601	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2910605	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2910611	1.00[CEU][hapmap]
rs2964173	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2964184	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2964193	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2964195	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2964200	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2964205	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2964208	0.88[JPT][hapmap]
rs35263833	0.81[AFR][1000 genomes]
rs37484	1.00[AFR][1000 genomes]
rs37485	1.00[AFR][1000 genomes]
rs37486	1.00[AFR][1000 genomes]
rs37488	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs37492	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs37516	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs37523	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs37526	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs37527	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs37528	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs37533	0.88[AFR][1000 genomes]
rs37536	1.00[AFR][1000 genomes]
rs40209	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs40210	1.00[AFR][1000 genomes]
rs41384	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs42963	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58174847	0.81[AFR][1000 genomes]
rs988697	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs989579	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]

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	nsv432746	chr5:57502859-57547419	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2081087	NDUFAF2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57520600-57526000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:57520800-57526000	Weak transcription	NHEK	skin
3	chr5:57521000-57526000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:57521800-57535600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:57522000-57525200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:57522000-57525800	Weak transcription	Psoas Muscle	Psoas
7	chr5:57522200-57522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:57522200-57522600	Enhancers	Osteobl	bone
9	chr5:57522200-57522800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:57522200-57523000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:57522400-57522800	Enhancers	Fetal Heart	heart

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