Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187535669..187538120-chr2:187548739..187551384,2	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1072901	0.80[ASN][1000 genomes]
rs10755000	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12475476	0.82[ASN][1000 genomes]
rs12618322	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12620821	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028008	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1448427	0.91[ASN][1000 genomes]
rs17406229	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121975	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121976	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2290083	0.83[ASN][1000 genomes]
rs2682868	0.86[EUR][1000 genomes]
rs2682873	0.86[EUR][1000 genomes]
rs3213964	0.91[ASN][1000 genomes]
rs34056045	0.81[ASN][1000 genomes]
rs34840521	0.91[ASN][1000 genomes]
rs35348196	0.91[ASN][1000 genomes]
rs3816375	0.88[ASN][1000 genomes]
rs41265951	0.81[ASN][1000 genomes]
rs4667108	0.88[ASN][1000 genomes]
rs4667112	0.82[ASN][1000 genomes]
rs4667113	0.81[ASN][1000 genomes]
rs55961288	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56222785	0.88[ASN][1000 genomes]
rs6705757	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7585442	0.87[ASN][1000 genomes]
rs7585471	0.87[ASN][1000 genomes]
rs930657	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9789704	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187538200-187552800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:187541800-187552800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
5	chr2:187542000-187555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:187543400-187558200	Weak transcription	NHDF-Ad	bronchial
7	chr2:187543600-187558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:187546000-187552000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:187546200-187558200	Weak transcription	Placenta	Placenta
10	chr2:187546800-187558000	Weak transcription	A549	lung

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