Variant report

Variant	rs12080763
Chromosome Location	chr1:180098234-180098235
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179922333..179925402-chr1:180094478..180098472,3	K562	blood:
2	chr1:180097925..180100588-chr1:180122221..180125022,3	MCF-7	breast:
3	chr1:180086567..180088551-chr1:180097799..180100579,2	K562	blood:
4	chr1:180097431..180099161-chr1:180099863..180102182,2	K562	blood:
5	chr1:180098168..180100831-chr1:180111412..180113177,2	K562	blood:
6	chr1:180097218..180099611-chr1:180115672..180117435,2	K562	blood:
7	chr1:180095809..180098718-chr1:180115935..180118592,2	K562	blood:
8	chr1:180094976..180098396-chr1:180099565..180103492,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116260	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000260360	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10753206	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs10798730	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798732	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10913931	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12040314	0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12040376	0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4147170	0.81[JPT][hapmap]
rs4336810	0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4506429	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs4622030	0.81[JPT][hapmap]
rs4652471	0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4652472	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4652473	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4652475	0.84[ASN][1000 genomes]
rs56279106	0.85[EUR][1000 genomes]
rs6425607	0.81[JPT][hapmap]
rs6425609	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6691060	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs6691435	0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7525385	0.81[EUR][1000 genomes]
rs7551181	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9425483	0.83[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9425485	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9425486	0.89[ASN][1000 genomes]
rs9425489	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9425863	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9425866	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9425868	0.93[JPT][hapmap];0.87[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	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180086600-180100800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:180086600-180102400	Weak transcription	Pancreas	Pancrea
3	chr1:180095200-180100200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:180096000-180099600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr1:180096000-180102400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:180096400-180099800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:180096400-180100800	Weak transcription	K562	blood
8	chr1:180096600-180100800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:180097400-180098800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:180097400-180098800	Enhancers	Esophagus	oesophagus
11	chr1:180097600-180099800	Weak transcription	Primary B cells from cord blood	blood
12	chr1:180097800-180098800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:180098000-180099200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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