Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145583345..145587433-chr2:145589219..145592326,4	K562	blood:
2	chr2:145589399..145590940-chr2:145600068..145601853,2	K562	blood:

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11689575	1.00[ASN][1000 genomes]
rs4384720	1.00[ASN][1000 genomes]
rs57477957	1.00[ASN][1000 genomes]
rs57834922	1.00[ASN][1000 genomes]
rs58504774	1.00[ASN][1000 genomes]
rs58811157	1.00[ASN][1000 genomes]
rs59042570	1.00[ASN][1000 genomes]
rs66537831	1.00[ASN][1000 genomes]
rs6718158	1.00[ASN][1000 genomes]
rs67382063	1.00[ASN][1000 genomes]
rs6752912	1.00[ASN][1000 genomes]
rs68017203	1.00[ASN][1000 genomes]
rs72852118	1.00[ASN][1000 genomes]
rs72852120	1.00[ASN][1000 genomes]
rs72852133	1.00[ASN][1000 genomes]
rs72993904	1.00[ASN][1000 genomes]
rs72993910	1.00[ASN][1000 genomes]
rs72997876	1.00[ASN][1000 genomes]
rs72999719	1.00[ASN][1000 genomes]
rs72999723	1.00[ASN][1000 genomes]
rs72999734	1.00[ASN][1000 genomes]
rs72999737	1.00[ASN][1000 genomes]
rs72999751	1.00[ASN][1000 genomes]
rs72999753	1.00[ASN][1000 genomes]
rs73001719	1.00[ASN][1000 genomes]
rs73001730	1.00[ASN][1000 genomes]
rs73001732	1.00[ASN][1000 genomes]
rs73001735	1.00[ASN][1000 genomes]
rs73001749	1.00[ASN][1000 genomes]
rs73001751	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001755	1.00[ASN][1000 genomes]
rs73001758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73005508	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73963904	1.00[ASN][1000 genomes]
rs7595770	1.00[ASN][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145587800-145591400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:145588400-145592000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:145588400-145592600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:145589000-145592200	Weak transcription	NHLF	lung
5	chr2:145589200-145592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:145589400-145592200	Weak transcription	NHDF-Ad	bronchial
7	chr2:145589600-145590600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:145590000-145592000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:145590000-145592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:145590000-145592000	Weak transcription	K562	blood
11	chr2:145590000-145592800	Weak transcription	Brain Anterior Caudate	brain

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