Variant report

Variant	rs17479003
Chromosome Location	chr15:49745420-49745421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1023683	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519221	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519226	0.87[LWK][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519227	0.82[CEU][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11630318	0.93[CEU][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632038	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632303	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632575	0.88[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633282	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634636	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635005	0.93[CEU][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635308	0.93[CEU][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635354	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638314	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638515	0.81[EUR][1000 genomes]
rs11638606	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639423	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592277	0.94[MKK][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12913966	1.00[ASN][1000 genomes]
rs17396119	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396536	0.88[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396747	0.88[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397211	0.88[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400427	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400706	1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17400916	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17476361	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17477722	0.93[CEU][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17477923	0.89[MKK][hapmap]
rs17478618	1.00[CEU][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479205	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17479289	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28393768	1.00[ASN][1000 genomes]
rs28408092	1.00[ASN][1000 genomes]
rs28409376	1.00[ASN][1000 genomes]
rs28430272	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28484276	1.00[ASN][1000 genomes]
rs28669217	1.00[ASN][1000 genomes]
rs35692325	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338740	0.94[MKK][hapmap];0.86[AFR][1000 genomes]
rs57252806	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57749497	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59112977	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60594237	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61259878	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162633	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165168	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167474	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168316	0.82[CEU][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73392236	1.00[ASN][1000 genomes]
rs73392249	1.00[ASN][1000 genomes]
rs73392256	1.00[ASN][1000 genomes]
rs73392277	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392288	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394324	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394331	0.88[EUR][1000 genomes]
rs73394333	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394339	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394355	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394359	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396235	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396238	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398223	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398243	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398272	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398276	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73398284	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73400205	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8027094	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030457	0.88[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040716	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv9263	chr15:49734435-49809465	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv526246	chr15:49738233-49749735	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17479003	FGF7	cis	Muscle Skeletal	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49732000-49750200	Weak transcription	HSMM	muscle
2	chr15:49737000-49751200	Weak transcription	Ovary	ovary
3	chr15:49741800-49747400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:49742000-49752000	Weak transcription	Adipose Nuclei	Adipose
5	chr15:49742800-49748000	Weak transcription	Fetal Heart	heart
6	chr15:49742800-49750400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr15:49743000-49745600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:49743000-49748000	Weak transcription	Fetal Lung	lung
9	chr15:49743200-49745800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:49743200-49747200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:49743200-49748400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:49744400-49747200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:49745000-49745600	Weak transcription	NHDF-Ad	bronchial
14	chr15:49745000-49748200	Weak transcription	NHLF	lung
15	chr15:49745200-49745600	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:49745400-49745800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:49745400-49746400	Strong transcription	Osteobl	bone

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