Variant report

Variant	rs12439375
Chromosome Location	chr15:73080316-73080317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73078686..73082116-chr15:73085791..73087796,3	K562	blood:
2	chr15:73070867..73073438-chr15:73080121..73082937,2	K562	blood:
3	chr15:73080133..73082607-chr15:73083509..73085215,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11072384	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs11072387	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12440951	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12441084	0.84[AMR][1000 genomes]
rs12443420	0.83[ASN][1000 genomes]
rs12592955	0.81[AMR][1000 genomes]
rs12594667	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12594844	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12594938	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16957293	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2012253	0.86[JPT][hapmap]
rs2278543	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2415166	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28398258	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28502551	0.81[AMR][1000 genomes]
rs3179616	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34337823	0.81[AMR][1000 genomes]
rs35136341	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3759870	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3850988	0.91[JPT][hapmap]
rs4776611	0.88[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes]
rs4776616	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4777528	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs4777529	0.89[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes]
rs4777530	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4777531	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4777533	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4777537	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4777538	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4777540	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56915357	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57621041	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58600393	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59049627	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59152128	0.81[AMR][1000 genomes]
rs60601886	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60674997	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61311866	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61632994	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62017593	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62017598	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62017623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178409	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72662112	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72737337	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs730180	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs7495022	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7497429	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs8032586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73077000-73080600	Enhancers	HSMMtube	muscle
2	chr15:73077000-73088800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:73077200-73080400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:73077200-73080600	Enhancers	Brain Hippocampus Middle	brain
5	chr15:73077200-73081200	Enhancers	Fetal Brain Male	brain
6	chr15:73077400-73081400	Weak transcription	Spleen	Spleen
7	chr15:73077800-73080600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:73078200-73081200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:73078400-73080400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:73078600-73082000	Weak transcription	NHDF-Ad	bronchial
11	chr15:73078600-73082200	Weak transcription	Osteobl	bone
12	chr15:73078600-73082400	Weak transcription	NH-A	brain
13	chr15:73079000-73080600	Enhancers	Fetal Brain Female	brain
14	chr15:73079000-73082400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:73079200-73082200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:73079600-73082600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:73079800-73081200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:73080000-73081600	Weak transcription	Brain Anterior Caudate	brain
19	chr15:73080000-73082600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:73080000-73088800	Weak transcription	Brain Cingulate Gyrus	brain

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