Variant report

Variant	rs11638314
Chromosome Location	chr15:49713944-49713945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr15:49713901-49714540	HepG2	liver:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
2	SMC3	chr15:49713848-49714529	SK-N-SH	brain:	n/a	chr15:49714284-49714298 chr15:49714290-49714298
3	CTCF	chr15:49713884-49714508	HCT-116	colon:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
4	RAD21	chr15:49713900-49714580	ECC-1	luminal epithelium:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
5	RAD21	chr15:49713856-49714497	H1-hESC	embryonic stem cell:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
6	RAD21	chr15:49713931-49714644	HCT-116	colon:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
7	CTCF	chr15:49713881-49714675	SK-N-SH	brain:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
8	RAD21	chr15:49713801-49714682	SK-N-SH	brain:	n/a	chr15:49714280-49714299 chr15:49714289-49714298

No.	Distal block	Cell Line	Cell type
1	chr15:49507777..49508557-chr15:49713732..49714707,3	MCF-7	breast:
2	chr15:49527728..49528436-chr15:49713894..49714536,2	K562	blood:
3	chr15:49527636..49528418-chr15:49713788..49714635,3	MCF-7	breast:
4	chr15:49527761..49528667-chr15:49713584..49714644,4	MCF-7	breast:

Variant related genes	Relation type
FGF7	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1023683	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519221	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519226	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519227	0.86[EUR][1000 genomes]
rs1055254	0.82[EUR][1000 genomes]
rs11630318	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632038	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632303	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632575	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633282	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634636	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635005	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635308	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635814	1.00[ASN][1000 genomes]
rs11638515	0.84[EUR][1000 genomes]
rs11638606	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639423	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592277	0.88[EUR][1000 genomes]
rs12913966	1.00[ASN][1000 genomes]
rs17396119	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396536	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396747	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397211	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400427	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400706	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17400916	1.00[ASN][1000 genomes]
rs17476361	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476940	0.82[EUR][1000 genomes]
rs17477722	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17478618	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479003	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479205	0.86[EUR][1000 genomes]
rs17479289	0.86[EUR][1000 genomes]
rs2078024	0.82[EUR][1000 genomes]
rs28393768	1.00[ASN][1000 genomes]
rs28408092	1.00[ASN][1000 genomes]
rs28409376	1.00[ASN][1000 genomes]
rs28430272	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28484276	1.00[ASN][1000 genomes]
rs28669217	1.00[ASN][1000 genomes]
rs35692325	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784630	0.80[EUR][1000 genomes]
rs57252806	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57749497	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785991	1.00[ASN][1000 genomes]
rs59112977	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59356430	0.82[EUR][1000 genomes]
rs60594237	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61259878	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162633	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165168	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167474	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168316	0.86[EUR][1000 genomes]
rs7177624	1.00[ASN][1000 genomes]
rs73390384	1.00[ASN][1000 genomes]
rs73390392	1.00[ASN][1000 genomes]
rs73392236	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392249	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392256	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392277	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392288	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394324	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394331	0.92[EUR][1000 genomes]
rs73394333	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394339	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394355	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394357	0.81[EUR][1000 genomes]
rs73394359	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396206	0.82[EUR][1000 genomes]
rs73396235	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396238	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398223	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398243	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398272	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398276	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73398284	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73400205	0.85[EUR][1000 genomes]
rs8027094	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030457	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033311	0.82[EUR][1000 genomes]
rs8040716	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
rs11638314	FGF7	cis	Muscle Skeletal	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49708400-49714400	Weak transcription	HUVEC	blood vessel
2	chr15:49708600-49714000	Weak transcription	Osteobl	bone
3	chr15:49709800-49715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:49713400-49714000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:49713600-49714000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:49713600-49714200	Enhancers	Fetal Lung	lung
7	chr15:49713600-49714200	Enhancers	Rectal Smooth Muscle	rectum
8	chr15:49713800-49714000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:49713800-49714000	Enhancers	Brain Hippocampus Middle	brain
10	chr15:49713800-49714000	Enhancers	Colon Smooth Muscle	Colon

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