Variant report

Variant	rs17158391
Chromosome Location	chr15:83292724-83292725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83292146..83294516-chr15:83298424..83300168,2	K562	blood:
2	chr11:101401501..101402180-chr15:83292649..83293203,2	MCF-7	breast:
3	chr15:83286159..83288277-chr15:83291289..83293373,3	K562	blood:
4	chr15:83290643..83294390-chr15:83347745..83350836,4	MCF-7	breast:
5	chr15:83289605..83293434-chr15:83349009..83350670,4	MCF-7	breast:
6	chr15:83290488..83293099-chr15:83294149..83296751,2	K562	blood:

Variant related genes	Relation type
ENSG00000103723	Chromatin interaction
ENSG00000214575	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10152286	1.00[CEU][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10468211	0.81[AMR][1000 genomes]
rs10468219	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs11635460	0.86[YRI][hapmap]
rs12324877	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12385960	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12385961	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12437576	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12438371	0.86[YRI][hapmap]
rs12438565	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12440776	1.00[CEU][hapmap]
rs12441776	1.00[CEU][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12442733	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12443184	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs13379712	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs17158405	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1877242	0.86[YRI][hapmap]
rs2379997	0.92[YRI][hapmap]
rs28485966	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59568968	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7162465	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7163990	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7182320	0.86[YRI][hapmap]
rs72751676	0.81[AMR][1000 genomes]
rs783543	0.80[YRI][hapmap]
rs9630495	0.90[AFR][1000 genomes]
rs9806343	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9806381	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9806591	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427965	chr15:82741381-83310525	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv428309	chr15:82741381-83310525	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2758391	chr15:82879646-83310525	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	esv2760046	chr15:82879646-83310525	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1035899	chr15:83108446-83315731	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833071	chr15:83123646-83310510	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17158391	LOC283726	cis	multi-tissue	Pritchard

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83241800-83297600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:83280200-83293000	Weak transcription	Brain Anterior Caudate	brain
3	chr15:83282800-83312800	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:83283000-83293000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:83283800-83292800	Weak transcription	K562	blood
6	chr15:83287600-83296600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:83288800-83297000	Weak transcription	Brain Substantia Nigra	brain
8	chr15:83290600-83296800	Weak transcription	Brain Angular Gyrus	brain
9	chr15:83291400-83293000	Weak transcription	HSMM	muscle
10	chr15:83291400-83297600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:83292600-83293400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:83292600-83293400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:83292600-83294000	Enhancers	Osteobl	bone

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