Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40773010..40775504-chr2:40776139..40777780,2	K562	blood:

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12989012	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12992540	0.97[ASN][1000 genomes]
rs12992598	0.94[ASN][1000 genomes]
rs13001437	0.83[ASN][1000 genomes]
rs13003735	0.83[ASN][1000 genomes]
rs13018810	0.81[ASN][1000 genomes]
rs13019175	0.80[ASN][1000 genomes]
rs13019183	0.85[ASN][1000 genomes]
rs13019201	0.80[ASN][1000 genomes]
rs13034467	0.83[ASN][1000 genomes]
rs17026128	0.85[ASN][1000 genomes]
rs34106653	0.98[ASN][1000 genomes]
rs34466654	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34802220	0.83[ASN][1000 genomes]
rs34875537	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35422863	0.94[ASN][1000 genomes]
rs35951633	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57007180	0.82[ASN][1000 genomes]
rs58398246	0.81[ASN][1000 genomes]
rs60794473	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61356646	0.98[ASN][1000 genomes]
rs61702121	0.98[ASN][1000 genomes]
rs62149458	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67526252	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs71441111	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71441112	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7561779	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765190	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
3	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40768800-40778800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:40774600-40777800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:40774800-40780600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:40775000-40778000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:40777400-40777800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:40777400-40777800	Enhancers	Fetal Heart	heart
7	chr2:40777400-40778200	Enhancers	Small Intestine	intestine
8	chr2:40777600-40778400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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