Variant report

Variant	rs56014137
Chromosome Location	chr15:59731864-59731865
allele	A/T
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	ESR1	chr15:59731826-59732226	ECC-1	luminal epithelium:	n/a	chr15:59732073-59732090
2	ESR1	chr15:59731751-59732357	ECC-1	luminal epithelium:	n/a	chr15:59732073-59732090
3	ESR1	chr15:59731765-59732231	ECC-1	luminal epithelium:	n/a	chr15:59732073-59732090

Variant related genes	Relation type
FAM81A	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10450987	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11633115	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633362	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637961	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3803445	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4078341	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4334234	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4419003	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4624109	0.80[EUR][1000 genomes]
rs4774332	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56041460	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59326013	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62013060	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62013062	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62013065	0.92[ASN][1000 genomes]
rs62013066	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62013067	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172008	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7182428	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8025789	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8029197	0.91[AMR][1000 genomes];0.92[EUR][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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv934082	chr15:59608605-59733211	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv904276	chr15:59648633-59743010	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
4	nsv904278	chr15:59705005-59784648	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59730800-59754800	Weak transcription	Aorta	Aorta
2	chr15:59731000-59737200	Weak transcription	Ovary	ovary
3	chr15:59731000-59739800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:59731200-59732000	Enhancers	Primary B cells from cord blood	blood
5	chr15:59731200-59732400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr15:59731200-59733400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr15:59731200-59733800	Weak transcription	Brain Anterior Caudate	brain
8	chr15:59731200-59735600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:59731200-59737400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:59731200-59740000	Weak transcription	Stomach Mucosa	stomach
11	chr15:59731400-59732000	Enhancers	Fetal Brain Male	brain
12	chr15:59731400-59732200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:59731400-59737200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:59731400-59737400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:59731400-59752200	Weak transcription	A549	lung
16	chr15:59731600-59732000	Enhancers	Fetal Heart	heart
17	chr15:59731600-59735800	Weak transcription	Fetal Kidney	kidney
18	chr15:59731600-59753600	Weak transcription	Fetal Brain Female	brain
19	chr15:59731800-59732200	Active TSS	Hela-S3	cervix
20	chr15:59731800-59732800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:59731800-59733600	Weak transcription	GM12878-XiMat	blood
22	chr15:59731800-59736000	Weak transcription	Brain Angular Gyrus	brain
23	chr15:59731800-59753400	Weak transcription	Brain Inferior Temporal Lobe	brain

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