Variant report

Variant	rs73400205
Chromosome Location	chr15:49734543-49734544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10519226	0.86[AFR][1000 genomes]
rs10519227	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11632575	0.82[EUR][1000 genomes]
rs11633282	0.81[EUR][1000 genomes]
rs11635308	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11635354	0.85[EUR][1000 genomes]
rs11638314	0.85[EUR][1000 genomes]
rs11638606	0.81[EUR][1000 genomes]
rs12591799	0.82[ASN][1000 genomes]
rs12592177	0.82[ASN][1000 genomes]
rs12592277	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12592296	0.82[ASN][1000 genomes]
rs12594154	0.82[ASN][1000 genomes]
rs12594827	0.82[ASN][1000 genomes]
rs12595497	0.91[ASN][1000 genomes]
rs12595701	0.91[ASN][1000 genomes]
rs17400427	0.86[AFR][1000 genomes]
rs17400706	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17477722	0.83[EUR][1000 genomes]
rs17477923	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17478618	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17479003	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17479205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17479289	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34635038	0.91[ASN][1000 genomes]
rs3809495	0.91[ASN][1000 genomes]
rs4338740	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252806	0.81[EUR][1000 genomes]
rs59112977	0.83[EUR][1000 genomes]
rs61259878	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7162633	0.81[EUR][1000 genomes]
rs7168316	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396235	0.81[EUR][1000 genomes]
rs73396238	0.85[EUR][1000 genomes]
rs73398223	0.81[EUR][1000 genomes]
rs73398243	0.83[EUR][1000 genomes]
rs73398264	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73398272	0.85[EUR][1000 genomes]
rs73398276	0.85[EUR][1000 genomes]
rs8027094	0.83[EUR][1000 genomes]
rs8030457	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73400205	FGF7	cis	Muscle Skeletal	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49716400-49737200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:49721000-49736200	Weak transcription	Right Ventricle	heart
3	chr15:49730400-49744600	Weak transcription	NHLF	lung
4	chr15:49731600-49734600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:49731600-49734600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:49732000-49736600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr15:49732000-49750200	Weak transcription	HSMM	muscle
8	chr15:49732200-49736200	Weak transcription	Ovary	ovary
9	chr15:49732200-49736200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr15:49732400-49736800	Weak transcription	Fetal Stomach	stomach
11	chr15:49732400-49738200	Weak transcription	NHDF-Ad	bronchial
12	chr15:49732800-49741000	Weak transcription	Fetal Heart	heart
13	chr15:49733200-49735200	Enhancers	Colon Smooth Muscle	Colon
14	chr15:49733200-49741800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:49733600-49734800	Enhancers	Osteobl	bone
16	chr15:49733600-49735200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:49733800-49734600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:49733800-49734800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:49733800-49736200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:49734400-49734800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:49734400-49735200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr15:49734400-49736400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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