Variant report

Variant	rs11639423
Chromosome Location	chr15:49707645-49707646
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1023683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519221	1.00[ASN][1000 genomes]
rs10519226	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630318	1.00[ASN][1000 genomes]
rs11632038	1.00[ASN][1000 genomes]
rs11632303	1.00[ASN][1000 genomes]
rs11632575	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633282	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634636	1.00[ASN][1000 genomes]
rs11635005	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11635308	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635354	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635814	1.00[ASN][1000 genomes]
rs11638314	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638606	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592277	0.81[AFR][1000 genomes]
rs12913966	1.00[ASN][1000 genomes]
rs17396119	1.00[ASN][1000 genomes]
rs17396536	1.00[ASN][1000 genomes]
rs17396747	1.00[ASN][1000 genomes]
rs17397211	1.00[ASN][1000 genomes]
rs17400427	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400706	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17400916	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476361	1.00[ASN][1000 genomes]
rs17477722	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17477923	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17478618	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479003	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28393768	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28408092	1.00[ASN][1000 genomes]
rs28409376	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28430272	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28484276	1.00[ASN][1000 genomes]
rs28669217	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35692325	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4338740	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs57252806	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57749497	1.00[ASN][1000 genomes]
rs57785991	1.00[ASN][1000 genomes]
rs59112977	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60594237	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61259878	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162633	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165168	1.00[ASN][1000 genomes]
rs7167474	1.00[ASN][1000 genomes]
rs7177624	1.00[ASN][1000 genomes]
rs73390362	1.00[ASN][1000 genomes]
rs73390384	1.00[ASN][1000 genomes]
rs73390392	1.00[ASN][1000 genomes]
rs73392236	1.00[ASN][1000 genomes]
rs73392249	1.00[ASN][1000 genomes]
rs73392256	1.00[ASN][1000 genomes]
rs73392277	1.00[ASN][1000 genomes]
rs73392288	1.00[ASN][1000 genomes]
rs73394324	1.00[ASN][1000 genomes]
rs73394333	1.00[ASN][1000 genomes]
rs73394339	1.00[ASN][1000 genomes]
rs73394355	1.00[ASN][1000 genomes]
rs73394359	1.00[ASN][1000 genomes]
rs73396235	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396238	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73398223	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398243	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398264	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73398272	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398276	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73398284	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027094	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030457	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040716	0.81[AMR][1000 genomes];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	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11639423	FGF7	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49703000-49709600	Weak transcription	Fetal Lung	lung
2	chr15:49707200-49708600	Enhancers	NHDF-Ad	bronchial
3	chr15:49707200-49708600	Enhancers	Osteobl	bone
4	chr15:49707200-49709000	Enhancers	Hela-S3	cervix
5	chr15:49707400-49707800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr15:49707400-49707800	Enhancers	NH-A	brain
7	chr15:49707400-49708200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:49707400-49708400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:49707400-49708400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:49707400-49708400	Enhancers	HUVEC	blood vessel
11	chr15:49707400-49708600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:49707400-49708600	Enhancers	HMEC	breast
13	chr15:49707400-49708800	Enhancers	NHLF	lung
14	chr15:49707600-49708400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:49707600-49708400	Enhancers	NHEK	skin
16	chr15:49707600-49709400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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