Variant report

Variant	rs1006998
Chromosome Location	chr8:126601540-126601541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126601003..126603272-chr8:126603536..126606567,4	MCF-7	breast:
2	chr8:126593358..126595719-chr8:126599796..126603386,4	K562	blood:
3	chr8:126440732..126445779-chr8:126600349..126612045,20	MCF-7	breast:
4	chr8:126550463..126552355-chr8:126601119..126603239,2	MCF-7	breast:
5	chr8:126585008..126593535-chr8:126599853..126611131,18	MCF-7	breast:
6	chr8:126601013..126605207-chr8:126607092..126609721,3	MCF-7	breast:
7	chr8:126588355..126592631-chr8:126600736..126604091,3	MCF-7	breast:
8	chr8:126583666..126586593-chr8:126600715..126602513,2	MCF-7	breast:
9	chr8:126593642..126596532-chr8:126599701..126606279,16	MCF-7	breast:
10	chr8:126592991..126596537-chr8:126599819..126603670,10	MCF-7	breast:
11	chr8:126441094..126445421-chr8:126601055..126606149,10	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10956253	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17323382	0.89[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17330350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17330462	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2085125	0.88[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs55752928	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56112519	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56262214	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60426038	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62521562	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6470368	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6981191	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017624	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017801	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs748100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3527194	chr8:126594370-126602043	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv2635336	chr8:126594598-126601849	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv3420498	chr8:126594695-126601724	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3527191	chr8:126594796-126601839	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3527192	chr8:126595020-126601548	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1006998	ZNF572	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126592600-126603800	Weak transcription	Pancreas	Pancrea
2	chr8:126600000-126604200	Weak transcription	Aorta	Aorta
3	chr8:126601200-126601600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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