Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114519834..114522706-chr2:114524263..114527074,3	K562	blood:
2	chr2:114513054..114520343-chr2:114521272..114525716,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10180743	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10199704	0.82[JPT][hapmap]
rs10205467	0.82[JPT][hapmap]
rs10206174	0.82[JPT][hapmap]
rs10938	0.82[JPT][hapmap]
rs11679707	0.82[JPT][hapmap]
rs11901060	0.82[JPT][hapmap]
rs12386146	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13004622	0.82[JPT][hapmap]
rs13029093	0.82[JPT][hapmap]
rs13389454	0.94[ASN][1000 genomes]
rs1584434	0.82[JPT][hapmap]
rs17048473	0.82[JPT][hapmap]
rs2122095	0.82[JPT][hapmap]
rs2305254	0.82[JPT][hapmap]
rs2418915	0.82[JPT][hapmap]
rs2418916	0.82[JPT][hapmap]
rs34264290	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4849269	0.82[JPT][hapmap]
rs6704673	0.82[JPT][hapmap]
rs6739072	0.82[JPT][hapmap]
rs7587218	0.82[JPT][hapmap]
rs7592689	0.82[JPT][hapmap]
rs7600550	0.82[JPT][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	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4849274	SLC35F5	cis	cerebellum	SCAN
rs4849274	IL1B	cis	cerebellum	SCAN
rs4849274	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL
rs4849274	SLC35F5	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114521000-114526400	Weak transcription	NHDF-Ad	bronchial
2	chr2:114521200-114525200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:114521200-114525400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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