Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73666457..73670493-chr11:73673251..73675540,6	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1685355	0.86[CHB][hapmap]
rs1726745	0.82[CHB][hapmap]
rs3019463	0.82[ASN][1000 genomes]
rs34408426	0.82[ASN][1000 genomes]
rs586773	0.82[ASN][1000 genomes]
rs588097	0.82[CHB][hapmap]
rs591758	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs599277	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs603950	0.82[ASN][1000 genomes]
rs621976	0.82[ASN][1000 genomes]
rs632862	0.81[ASN][1000 genomes]
rs635441	0.82[CHB][hapmap]
rs647126	0.82[CHB][hapmap]
rs653263	0.82[TSI][hapmap]
rs653529	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs655717	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs659366	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs660339	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs673494	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs675547	0.81[ASN][1000 genomes]
rs7926165	0.86[CHB][hapmap]

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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv1827060	chr11:73670645-73694754	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs605442	PAAF1	cis	lymphoblastoid	seeQTL
rs605442	MRPL48	cis	cerebellum	SCAN
rs605442	C2CD3	cis	cerebellum	SCAN
rs605442	MRPL48	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73669000-73685800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:73669800-73675200	Weak transcription	K562	blood
3	chr11:73669800-73681000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:73671000-73675200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:73672600-73674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:73672600-73675200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:73672800-73673800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:73672800-73675200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:73672800-73675600	Weak transcription	HSMMtube	muscle
10	chr11:73672800-73675800	Weak transcription	Osteobl	bone
11	chr11:73672800-73684200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:73672800-73684800	Weak transcription	HSMM	muscle
13	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion

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