Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189410342..189413264-chr2:189419173..189420949,2	K562	blood:

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

rs_ID	r²[population]
rs10153688	0.81[EUR][1000 genomes]
rs10185750	0.81[EUR][1000 genomes]
rs10804021	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10931363	0.81[EUR][1000 genomes]
rs11685238	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11902664	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12475894	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12476413	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4453658	0.81[EUR][1000 genomes]
rs4667231	0.81[EUR][1000 genomes]
rs55663622	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6414119	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6434285	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6727633	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs67425558	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7419798	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7420808	0.81[EUR][1000 genomes]
rs7423554	0.81[EUR][1000 genomes]
rs7424421	0.83[AFR][1000 genomes]
rs7587596	0.81[EUR][1000 genomes]
rs7602180	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189383200-189422000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:189383200-189423800	Weak transcription	Placenta	Placenta
3	chr2:189384800-189442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:189388200-189434000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:189395000-189415600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:189395000-189421800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:189395000-189422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:189395400-189421800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:189396000-189413000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:189400200-189420000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:189401600-189420200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:189406800-189422400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:189406800-189425800	Weak transcription	Aorta	Aorta
14	chr2:189409600-189420000	Weak transcription	Fetal Lung	lung
15	chr2:189411600-189418200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:189412000-189414400	Weak transcription	HUVEC	blood vessel

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