Variant report

Variant	rs6994076
Chromosome Location	chr8:63999561-63999562
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63995378..63997013-chr8:63999187..64001966,2	K562	blood:
2	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:

Variant related genes	Relation type
ENSG00000137563	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10112226	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031551	0.88[ASN][1000 genomes]
rs11545076	0.88[ASN][1000 genomes]
rs11545077	0.88[ASN][1000 genomes]
rs11775699	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11988534	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11989788	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12544045	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12547126	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13267266	0.88[ASN][1000 genomes]
rs1378526	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1800909	0.88[ASN][1000 genomes]
rs1963947	0.88[ASN][1000 genomes]
rs1963948	0.88[ASN][1000 genomes]
rs34169986	0.88[ASN][1000 genomes]
rs34231825	0.88[ASN][1000 genomes]
rs34264705	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34349258	0.86[ASN][1000 genomes]
rs34417501	0.91[ASN][1000 genomes]
rs34428496	0.88[ASN][1000 genomes]
rs34499912	0.88[ASN][1000 genomes]
rs34554414	0.88[ASN][1000 genomes]
rs34565227	0.88[ASN][1000 genomes]
rs34753538	0.88[ASN][1000 genomes]
rs35525331	0.88[ASN][1000 genomes]
rs35551451	0.86[ASN][1000 genomes]
rs35791650	0.88[ASN][1000 genomes]
rs35915855	0.86[ASN][1000 genomes]
rs35945381	0.88[ASN][1000 genomes]
rs3758149	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3780126	0.85[CEU][hapmap]
rs4289804	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4501570	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4587328	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4606052	0.96[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4625028	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737628	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57403824	0.89[ASN][1000 genomes]
rs57800685	0.84[ASN][1000 genomes]
rs62510072	0.88[ASN][1000 genomes]
rs62510090	0.88[ASN][1000 genomes]
rs6472067	0.85[CEU][hapmap]
rs6472072	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472073	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472075	0.89[CEU][hapmap]
rs66666227	0.90[ASN][1000 genomes]
rs67742771	0.84[ASN][1000 genomes]
rs6996325	0.89[CEU][hapmap]
rs7006471	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7386567	0.85[CEU][hapmap]
rs7823031	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9792158	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[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	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv465701	chr8:63951237-64080486	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv611448	chr8:63951237-64080486	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3373017	chr8:63989447-64014250	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3445521	chr8:63989447-64017270	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3445164	chr8:63997798-63999646	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6994076	ARMC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63997600-64000000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:63997800-63999600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:63999200-63999600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:63999200-64000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:63999200-64000400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:63999200-64001200	Weak transcription	Placenta	Placenta
7	chr8:63999200-64001600	Weak transcription	Pancreas	Pancrea
8	chr8:63999200-64002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:63999200-64002800	Enhancers	Liver	Liver
10	chr8:63999400-63999600	Enhancers	Stomach Smooth Muscle	stomach
11	chr8:63999400-64001200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:63999400-64001400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:63999400-64001800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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