Variant report

Variant	rs28144
Chromosome Location	chr8:90822759-90822760
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	chr8:90819524..90821279-chr8:90821317..90823717,2	MCF-7	breast:
2	chr8:90818033..90820526-chr8:90821604..90823395,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1003843	0.81[CHB][hapmap]
rs10112852	0.82[CHB][hapmap]
rs11989430	0.84[ASN][1000 genomes]
rs13280951	0.90[ASN][1000 genomes]
rs218907	0.82[CHB][hapmap]
rs218908	0.82[CHB][hapmap]
rs218913	0.81[CHB][hapmap]
rs218929	0.81[CHB][hapmap]
rs2338882	0.90[ASN][1000 genomes]
rs28405481	0.84[ASN][1000 genomes]
rs28461337	0.90[ASN][1000 genomes]
rs2975240	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs368812	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs369771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs370282	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs376110	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs383592	0.85[CEU][hapmap]
rs394108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39501	0.80[CEU][hapmap]
rs39502	0.82[CEU][hapmap]
rs39509	0.86[CEU][hapmap];0.80[AMR][1000 genomes]
rs39515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39516	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39519	0.87[YRI][hapmap]
rs39767	0.92[EUR][1000 genomes]
rs39768	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39769	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs39771	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs400411	0.80[AMR][1000 genomes]
rs402434	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40247	0.82[CEU][hapmap]
rs40381	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40382	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40453	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs40457	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40458	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40547	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40636	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40637	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40638	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40639	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs411279	0.81[CEU][hapmap]
rs416324	0.85[CEU][hapmap];0.80[AMR][1000 genomes]
rs421411	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422559	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42345	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42346	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43133	0.80[CEU][hapmap]
rs43135	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs43136	1.00[YRI][hapmap]
rs43226	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs43227	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs43228	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs43229	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs435600	0.81[EUR][1000 genomes]
rs438485	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs441548	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs445172	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs445675	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447611	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs452694	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs453266	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs454561	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs51331	0.86[CEU][hapmap]
rs62530862	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs28144	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs28144	RIPK2	Cis_1M	lymphoblastoid	RTeQTL
rs28144	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90814000-90824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:90814600-90823400	Weak transcription	NHDF-Ad	bronchial
4	chr8:90817400-90825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:90818000-90824600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:90818600-90824800	Weak transcription	A549	lung
7	chr8:90821200-90822800	Weak transcription	Osteobl	bone
8	chr8:90822200-90823600	Enhancers	Muscle Satellite Cultured Cells	--

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