Variant report

Variant	rs17185593
Chromosome Location	chr14:25526309-25526310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:25517771..25520520-chr14:25522589..25526544,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168952	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10483294	0.94[ASN][1000 genomes]
rs11623931	0.95[ASN][1000 genomes]
rs11628356	0.96[ASN][1000 genomes]
rs17185509	0.92[JPT][hapmap]
rs17185677	0.93[ASN][1000 genomes]
rs17185684	0.93[ASN][1000 genomes]
rs17185691	0.93[ASN][1000 genomes]
rs17185705	0.94[ASN][1000 genomes]
rs17257668	0.88[GIH][hapmap]
rs17257752	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs17257808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17257836	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17257871	0.93[ASN][1000 genomes]
rs17257878	0.93[ASN][1000 genomes]
rs17257885	0.93[ASN][1000 genomes]
rs17257892	0.93[ASN][1000 genomes]
rs1886054	0.92[JPT][hapmap]
rs1886055	0.88[GIH][hapmap]
rs1952504	0.96[ASN][1000 genomes]
rs1958389	0.93[ASN][1000 genomes]
rs2007289	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58640442	0.87[ASN][1000 genomes]
rs60783613	0.87[ASN][1000 genomes]
rs61254962	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61502598	0.94[ASN][1000 genomes]
rs7148029	0.93[ASN][1000 genomes]
rs7159074	0.97[ASN][1000 genomes]
rs74039209	0.89[ASN][1000 genomes]
rs9743589	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17185593	ACIN1	cis	cerebellum	SCAN
rs17185593	RNASE6	cis	parietal	SCAN
rs17185593	REC8	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25521600-25534400	Weak transcription	Pancreas	Pancrea
2	chr14:25524800-25526600	Enhancers	NHDF-Ad	bronchial
3	chr14:25524800-25527200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:25525000-25526400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:25525000-25526600	Enhancers	Brain Cingulate Gyrus	brain
6	chr14:25525000-25526800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:25525000-25526800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:25525000-25527000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr14:25525000-25527200	Enhancers	NHLF	lung
10	chr14:25525200-25526400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:25525200-25526600	Enhancers	Brain Substantia Nigra	brain
12	chr14:25525600-25526600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:25525600-25526800	Enhancers	Brain Angular Gyrus	brain
14	chr14:25525600-25526800	Enhancers	Brain Anterior Caudate	brain
15	chr14:25525600-25526800	Enhancers	Brain Hippocampus Middle	brain
16	chr14:25525600-25526800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:25526000-25526800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:25526000-25527000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:25526000-25527200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr14:25526200-25526400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:25526200-25526800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr14:25526200-25526800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:25526200-25526800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr14:25526200-25526800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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