Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171746245..171748066-chr2:171749702..171752500,2	K562	blood:

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

rs_ID	r²[population]
rs10210883	0.82[JPT][hapmap]
rs1045327	1.00[JPT][hapmap]
rs10460312	0.95[EUR][1000 genomes]
rs10930446	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896607	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12467996	0.87[EUR][1000 genomes]
rs13002517	1.00[JPT][hapmap]
rs13003218	1.00[JPT][hapmap]
rs13016705	1.00[JPT][hapmap]
rs2356238	0.86[EUR][1000 genomes]
rs34532258	0.81[ASN][1000 genomes]
rs35230775	0.81[ASN][1000 genomes]
rs3770442	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4233833	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233835	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4667666	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729098	0.87[EUR][1000 genomes]
rs6758331	1.00[JPT][hapmap]
rs6761759	1.00[JPT][hapmap]
rs6761889	1.00[JPT][hapmap]
rs67796509	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs731692	1.00[JPT][hapmap]
rs7558586	0.95[EUR][1000 genomes]
rs919190	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1541781	TLK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171743000-171751200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:171743000-171751400	Weak transcription	HSMMtube	muscle
3	chr2:171748600-171751400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:171749200-171751600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:171750600-171753600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:171750800-171751000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:171750800-171751400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:171750800-171751400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:171750800-171751400	Enhancers	Adipose Nuclei	Adipose

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