Variant report

Variant	rs7257174
Chromosome Location	chr19:37989588-37989589
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37987631..37989871-chr19:37996181..37998149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188227	Chromatin interaction
ENSG00000266916	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11667497	1.00[ASN][1000 genomes]
rs11667866	1.00[ASN][1000 genomes]
rs11668217	1.00[ASN][1000 genomes]
rs11669502	1.00[ASN][1000 genomes]
rs11671051	1.00[EUR][1000 genomes]
rs11671057	1.00[ASN][1000 genomes]
rs11671358	1.00[ASN][1000 genomes]
rs11671510	1.00[ASN][1000 genomes]
rs11672064	1.00[ASN][1000 genomes]
rs11672330	1.00[ASN][1000 genomes]
rs16973488	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56822639	1.00[ASN][1000 genomes]
rs6508730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7245717	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7246762	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7250440	0.82[ASW][hapmap];0.85[YRI][hapmap]
rs7258798	0.85[YRI][hapmap]
rs7259754	1.00[AMR][1000 genomes]
rs7260625	1.00[ASW][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs8103087	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs8104809	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8108658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108739	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[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	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7257174	FUCA1	trans	lymphoblastoid	seeQTL
rs7257174	ABHD15	trans	lymphoblastoid	seeQTL
rs7257174	CAPG	trans	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37984800-37996400	Weak transcription	Fetal Heart	heart
2	chr19:37989000-37990200	Weak transcription	Brain Substantia Nigra	brain
3	chr19:37989000-37996200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:37989000-37996800	Weak transcription	Left Ventricle	heart
5	chr19:37989000-37996800	Weak transcription	Ovary	ovary
6	chr19:37989200-37990400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:37989200-37996400	Weak transcription	Brain Inferior Temporal Lobe	brain

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