Variant report

Variant	rs28557220
Chromosome Location	chr18:8054914-8054915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8046800..8049219-chr18:8053263..8054942,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11874504	1.00[CEU][hapmap]
rs12103962	0.94[AFR][1000 genomes]
rs16952975	1.00[CEU][hapmap]
rs2058469	1.00[CEU][hapmap]
rs2099932	0.82[ASW][hapmap];0.89[YRI][hapmap]
rs28367342	0.94[AFR][1000 genomes]
rs28379285	0.86[AFR][1000 genomes]
rs28478486	0.88[AFR][1000 genomes]
rs28511885	0.94[AFR][1000 genomes]
rs28521877	0.94[AFR][1000 genomes]
rs28526245	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28569201	0.94[AFR][1000 genomes]
rs28611270	1.00[AFR][1000 genomes]
rs28709298	0.94[AFR][1000 genomes]
rs4121769	1.00[CEU][hapmap]
rs552322	1.00[CEU][hapmap]
rs56941238	0.87[EUR][1000 genomes]
rs626707	1.00[CEU][hapmap]
rs722021	1.00[CEU][hapmap]
rs73383902	0.87[EUR][1000 genomes]
rs73385610	0.87[EUR][1000 genomes]
rs73385619	0.87[EUR][1000 genomes]
rs73385623	0.87[EUR][1000 genomes]
rs73385648	0.94[AFR][1000 genomes]
rs73385649	0.94[AFR][1000 genomes]
rs73385658	0.94[AFR][1000 genomes]
rs73385659	0.94[AFR][1000 genomes]
rs741110	1.00[CEU][hapmap]
rs8082876	1.00[CEU][hapmap]
rs8085855	0.87[EUR][1000 genomes]
rs8098561	1.00[CEU][hapmap]
rs9946952	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9948263	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs9950590	1.00[ASW][hapmap];0.88[LWK][hapmap];0.94[AFR][1000 genomes]
rs9951610	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9952873	1.00[ASW][hapmap];0.94[AFR][1000 genomes]
rs9953560	0.88[AFR][1000 genomes]
rs9955097	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs9957461	0.80[AFR][1000 genomes]
rs9963151	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9963467	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs9965217	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9966934	0.94[AFR][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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8030000-8056400	Weak transcription	Pancreas	Pancrea
2	chr18:8045800-8072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:8047000-8073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:8052600-8055800	Weak transcription	Left Ventricle	heart
5	chr18:8052600-8078200	Weak transcription	Ovary	ovary
6	chr18:8052600-8105200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:8054200-8065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:8054400-8055000	Enhancers	HUES48 Cell Line	embryonic stem cell

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