Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:171745069..171747543-chr2:171748658..171750760,2	MCF-7	breast:
2	chr2:171746245..171748066-chr2:171749702..171752500,2	K562	blood:
3	chr2:171741289..171744418-chr2:171747195..171750839,4	K562	blood:

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

rs_ID	r²[population]
rs1035827	0.82[JPT][hapmap]
rs10460312	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10930446	0.95[EUR][1000 genomes]
rs11696064	0.82[JPT][hapmap]
rs11896607	0.87[EUR][1000 genomes]
rs12467996	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618898	0.82[JPT][hapmap]
rs1541781	0.87[EUR][1000 genomes]
rs16859050	0.82[JPT][hapmap]
rs2098999	0.82[JPT][hapmap]
rs2356238	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755124	0.82[JPT][hapmap]
rs3755126	0.82[JPT][hapmap]
rs4233833	0.94[EUR][1000 genomes]
rs4233835	0.83[EUR][1000 genomes]
rs4667666	0.95[EUR][1000 genomes]
rs4668343	0.82[JPT][hapmap]
rs4668354	0.82[JPT][hapmap]
rs67796509	0.86[EUR][1000 genomes]
rs754058	0.82[JPT][hapmap]
rs7558586	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs919190	0.87[EUR][1000 genomes]
rs930036	0.82[JPT][hapmap]
rs964172	0.82[JPT][hapmap]

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
rs6729098	TLK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 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	chr2:171749200-171750600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:171749200-171751600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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