Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80016100..80017751-chr13:80021719..80023913,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1212082	0.81[CEU][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap]
rs1475797	0.89[CEU][hapmap];0.83[GIH][hapmap];0.93[TSI][hapmap]
rs1577416	0.89[CEU][hapmap]
rs2265378	1.00[ASW][hapmap]
rs2760102	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs2783119	0.88[CEU][hapmap]
rs314688	0.81[EUR][1000 genomes]
rs3742119	0.80[GIH][hapmap]
rs3903388	0.82[CEU][hapmap]
rs4885634	0.84[CEU][hapmap]
rs643778	1.00[ASW][hapmap]
rs6563110	1.00[YRI][hapmap]
rs6563113	0.89[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7321953	0.81[AFR][1000 genomes]
rs7338530	0.87[CEU][hapmap]
rs7339303	0.88[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7990250	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs8002042	0.89[CEU][hapmap]
rs9318626	0.82[CEU][hapmap]
rs9318627	0.80[GIH][hapmap]
rs9545067	1.00[ASW][hapmap]
rs9545086	0.81[CEU][hapmap]
rs9545087	0.82[CEU][hapmap]
rs9545097	0.82[CEU][hapmap]
rs9574409	1.00[ASW][hapmap]
rs9574422	0.81[CEU][hapmap]
rs9593396	0.82[CEU][hapmap];0.87[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs420387	RBM26	Cis_1M	lymphoblastoid	RTeQTL
rs420387	Hs.264076	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80010200-80025600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80015400-80020200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:80015600-80017000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr13:80016000-80016800	ZNF genes & repeats	Fetal Intestine Large	intestine
5	chr13:80016000-80017200	Enhancers	Stomach Mucosa	stomach
6	chr13:80016000-80019600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:80016200-80016800	Enhancers	Fetal Heart	heart
8	chr13:80016200-80025800	Weak transcription	H1 Cell Line	embryonic stem cell

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