Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22415174..22417433-chr20:22429813..22432715,2	K562	blood:

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11906432	0.80[AMR][1000 genomes]
rs12624722	0.89[AMR][1000 genomes]
rs12624953	0.89[AMR][1000 genomes]
rs1337922	0.83[EUR][1000 genomes]
rs1415813	0.89[AMR][1000 genomes]
rs17753624	0.83[EUR][1000 genomes]
rs17753672	0.89[AMR][1000 genomes]
rs17815747	0.98[EUR][1000 genomes]
rs17815753	0.96[EUR][1000 genomes]
rs2404164	0.83[EUR][1000 genomes]
rs4501019	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4533554	0.87[EUR][1000 genomes]
rs56838056	0.83[EUR][1000 genomes]
rs57564765	0.98[EUR][1000 genomes]
rs58743318	0.98[EUR][1000 genomes]
rs60555721	0.83[EUR][1000 genomes]
rs61665161	0.83[EUR][1000 genomes]
rs7269344	0.83[EUR][1000 genomes]
rs73296667	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73296682	0.98[EUR][1000 genomes]
rs73298912	0.83[EUR][1000 genomes]
rs73298913	0.83[EUR][1000 genomes]
rs73298915	0.83[EUR][1000 genomes]
rs73298930	0.80[AMR][1000 genomes]
rs8116145	0.84[AMR][1000 genomes]
rs8116146	0.84[AMR][1000 genomes]
rs8121629	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8121889	0.89[AMR][1000 genomes]
rs8121931	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8121938	0.83[EUR][1000 genomes]
rs8122127	0.83[EUR][1000 genomes]
rs8123670	0.83[EUR][1000 genomes]
rs945980	0.85[EUR][1000 genomes]
rs950519	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833942	chr20:22283122-22440749	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr20:22427400-22430800	Enhancers	Fetal Lung	lung
2	chr20:22427600-22430600	Enhancers	Fetal Stomach	stomach
3	chr20:22427600-22431000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr20:22429000-22431000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:22429400-22430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:22429600-22430800	Enhancers	Colon Smooth Muscle	Colon
7	chr20:22429600-22431000	Weak transcription	Fetal Intestine Small	intestine
8	chr20:22429600-22431200	Enhancers	Duodenum Mucosa	Duodenum
9	chr20:22429800-22430600	Bivalent Enhancer	Brain Hippocampus Middle	brain
10	chr20:22429800-22430600	Enhancers	Rectal Smooth Muscle	rectum
11	chr20:22429800-22431000	Enhancers	Stomach Smooth Muscle	stomach
12	chr20:22429800-22431000	Bivalent Enhancer	HepG2	liver
13	chr20:22429800-22431400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr20:22429800-22431800	Enhancers	Fetal Intestine Large	intestine
15	chr20:22430000-22431200	Enhancers	Stomach Mucosa	stomach
16	chr20:22430000-22431800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr20:22430000-22433200	Weak transcription	A549	lung
18	chr20:22430200-22434200	Weak transcription	Colonic Mucosa	Colon
19	chr20:22430200-22440400	Weak transcription	Gastric	stomach
20	chr20:22430400-22431200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr20:22430400-22435000	Enhancers	Liver	Liver

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