Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:169678781..169680698-chr2:169684813..169687488,2	K562	blood:
2	chr2:169675030..169679300-chr2:169679665..169684286,7	K562	blood:
3	chr2:169675392..169677475-chr2:169677807..169680088,2	K562	blood:

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17265731	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17265949	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2010230	0.89[ASN][1000 genomes]
rs2433679	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433680	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2433681	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2461362	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2461363	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2461390	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494120	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498488	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551037	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs553827	0.89[ASN][1000 genomes]
rs6433093	0.89[ASN][1000 genomes]
rs829955	0.89[ASN][1000 genomes]
rs830025	1.00[ASN][1000 genomes]
rs830026	1.00[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	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169660000-169688200	Weak transcription	Placenta	Placenta
2	chr2:169670000-169698000	Weak transcription	Stomach Mucosa	stomach
3	chr2:169670200-169690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:169670600-169690800	Weak transcription	Fetal Stomach	stomach
5	chr2:169673400-169683200	Weak transcription	Pancreas	Pancrea
6	chr2:169673400-169687600	Weak transcription	Right Ventricle	heart
7	chr2:169673400-169691600	Weak transcription	Colonic Mucosa	Colon
8	chr2:169673400-169692200	Weak transcription	Gastric	stomach
9	chr2:169676400-169687200	Weak transcription	Adipose Nuclei	Adipose
10	chr2:169676600-169687400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:169676600-169704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:169676600-169709600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:169676800-169680200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:169677000-169683800	Weak transcription	Lung	lung
15	chr2:169677000-169686000	Weak transcription	Left Ventricle	heart
16	chr2:169677600-169680600	Weak transcription	K562	blood
17	chr2:169677800-169681400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:169678400-169681200	Weak transcription	Fetal Intestine Large	intestine
19	chr2:169678400-169686000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:169678800-169682000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:169679800-169680200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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