Variant report

Variant	rs2124587
Chromosome Location	chr15:52034772-52034773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52028100..52031772-chr15:52032552..52038946,7	MCF-7	breast:
2	chr15:52026416..52029376-chr15:52033345..52036135,2	K562	blood:
3	chr15:52032888..52035475-chr15:52037626..52040413,3	K562	blood:
4	chr15:52033609..52037215-chr15:52040115..52042966,3	MCF-7	breast:
5	chr15:51913765..51915437-chr15:52031923..52034915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140280	Chromatin interaction
ENSG00000104093	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1133878	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16964482	1.00[ASN][1000 genomes]
rs16964483	1.00[ASN][1000 genomes]
rs17611465	1.00[ASN][1000 genomes]
rs1863429	0.81[AMR][1000 genomes]
rs1972419	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2016057	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2448810	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2448945	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2554354	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2554355	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2554358	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570230	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570243	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2593169	1.00[ASN][1000 genomes]
rs2606128	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2606130	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2606133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2606147	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622765	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622778	1.00[ASN][1000 genomes]
rs2623245	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2623247	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2623251	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2623258	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623263	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2623270	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2652595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652597	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28522862	1.00[ASN][1000 genomes]
rs28654101	1.00[ASN][1000 genomes]
rs28876142	1.00[ASN][1000 genomes]
rs691738	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71472920	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	esv2830011	chr15:52027777-52048710	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a
2	nsv569409	chr15:52028914-52268144	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2124587	RP11-707P17.1	cis	Nerve Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52030600-52043200	Weak transcription	Gastric	stomach
2	chr15:52031200-52043000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:52032400-52040800	Weak transcription	K562	blood

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