Variant report

Variant	rs7554249
Chromosome Location	chr1:85767794-85767795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85038431..85040264-chr1:85767538..85769464,2	K562	blood:
2	chr1:85763770..85765499-chr1:85767346..85769408,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10747317	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs10782542	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs10782543	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs11161573	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs11161585	0.96[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11161586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11161588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11161592	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11576939	1.00[CHB][hapmap]
rs11583827	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11585614	0.82[ASN][1000 genomes]
rs11587512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11590047	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12061305	0.93[ASN][1000 genomes]
rs12093484	1.00[CHB][hapmap];0.87[GIH][hapmap];0.83[LWK][hapmap];0.82[ASN][1000 genomes]
rs12405767	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12754032	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17125445	1.00[CHB][hapmap];0.87[GIH][hapmap];0.82[ASN][1000 genomes]
rs34743622	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4949927	1.00[CHB][hapmap]
rs4949928	1.00[CHB][hapmap]
rs57483398	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61771982	0.82[ASN][1000 genomes]
rs6668948	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6670921	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9432848	0.90[CHB][hapmap];0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7554249	DDAH1	cis	cerebellum	SCAN
rs7554249	GBP3	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
2	chr1:85764200-85768400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:85764400-85768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:85764400-85769000	Weak transcription	Fetal Stomach	stomach
5	chr1:85764400-85774000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:85764800-85768800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:85764800-85770400	Weak transcription	NHDF-Ad	bronchial
8	chr1:85765000-85768200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:85765000-85769000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:85765200-85773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:85765200-85773600	Weak transcription	HMEC	breast
12	chr1:85765400-85767800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:85765600-85768000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:85765600-85768000	Weak transcription	Lung	lung
15	chr1:85767000-85768200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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