Variant report

Variant	rs2808558
Chromosome Location	chr9:101244259-101244260
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101243400..101246141-chr9:101246777..101248511,2	K562	blood:
2	chr9:101243794..101246408-chr9:101558583..101560157,2	MCF-7	breast:
3	chr9:101242211..101245112-chr9:101568714..101571159,2	K562	blood:
4	chr9:101228599..101231536-chr9:101242879..101245760,3	MCF-7	breast:
5	chr9:101243556..101249649-chr9:101264074..101268141,6	MCF-7	breast:
6	chr9:101230097..101232149-chr9:101241542..101244430,2	K562	blood:
7	chr9:101216040..101217987-chr9:101243398..101245079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119514	Chromatin interaction
ENSG00000165138	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2151214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2779520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2779532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2779544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2779546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2779547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2779548	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2779550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2779552	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2779556	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2779557	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2779577	1.00[AFR][1000 genomes]
rs2779579	1.00[AFR][1000 genomes]
rs2779583	1.00[AFR][1000 genomes]
rs2779589	1.00[AFR][1000 genomes]
rs2779590	1.00[AFR][1000 genomes]
rs2779591	1.00[AFR][1000 genomes]
rs2779592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2779593	1.00[AFR][1000 genomes]
rs2779595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2808542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2808551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2808555	0.88[ASN][1000 genomes]
rs2808557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs871797	0.85[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831665	chr9:101170061-101367692	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv6630	chr9:101236324-101267349	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101226400-101248200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:101242200-101245000	Enhancers	NH-A	brain
3	chr9:101242400-101244600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:101242400-101245200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:101242400-101245200	Enhancers	Osteobl	bone
6	chr9:101242800-101244400	Enhancers	HMEC	breast
7	chr9:101242800-101244800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:101242800-101250000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:101243200-101244400	Enhancers	A549	lung
10	chr9:101243400-101244600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:101243600-101244600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:101243800-101244400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:101244000-101244400	Enhancers	Brain Cingulate Gyrus	brain
14	chr9:101244000-101245200	Enhancers	NHDF-Ad	bronchial
15	chr9:101244200-101244400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:101244200-101244400	Enhancers	Fetal Brain Male	brain
17	chr9:101244200-101244600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:101244200-101245000	Enhancers	Brain Angular Gyrus	brain

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