Variant report

Variant	rs844880
Chromosome Location	chr20:23102752-23102753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23099426..23103463-chr20:23105068..23107847,3	K562	blood:
2	chr20:23102012..23106528-chr20:23108448..23111067,5	K562	blood:
3	chr20:23102523..23105175-chr20:23127807..23130561,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1884657	0.83[EUR][1000 genomes]
rs844813	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs844820	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844824	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844832	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844833	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs844834	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844835	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844836	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844837	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs844838	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844839	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844841	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844843	0.90[ASN][1000 genomes]
rs844844	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844847	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844849	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844867	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844868	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844869	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844870	0.81[ASN][1000 genomes]
rs844872	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844873	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844876	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs844881	0.96[EUR][1000 genomes]
rs844884	0.96[EUR][1000 genomes]
rs844885	0.96[EUR][1000 genomes]
rs844886	0.96[EUR][1000 genomes]
rs844887	0.96[EUR][1000 genomes]
rs844888	0.96[EUR][1000 genomes]
rs844889	0.96[EUR][1000 genomes]
rs844891	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs844892	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv3402233	chr20:23101352-23105550	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3406606	chr20:23102177-23104925	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3493809	chr20:23102602-23104625	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs844880	CD93	cis	Whole Blood	GTEx
rs844880	AL118508.1	cis	Whole Blood	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23093000-23103200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:23097600-23110200	Weak transcription	Pancreas	Pancrea
4	chr20:23098000-23106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:23099600-23104600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr20:23099800-23105400	Weak transcription	Gastric	stomach
7	chr20:23100000-23103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:23100000-23104000	Weak transcription	GM12878-XiMat	blood
9	chr20:23100200-23102800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr20:23100200-23103400	Weak transcription	Primary B cells from cord blood	blood
11	chr20:23100200-23111200	Enhancers	Fetal Thymus	thymus
12	chr20:23100400-23103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr20:23100400-23106000	Weak transcription	Colonic Mucosa	Colon
14	chr20:23100600-23103200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:23100600-23103200	Flanking Active TSS	Dnd41	blood
16	chr20:23101000-23104400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:23101000-23104600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:23101200-23105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr20:23101200-23106600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr20:23101200-23109400	Weak transcription	Liver	Liver
21	chr20:23101400-23103200	Enhancers	K562	blood
22	chr20:23101400-23105800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr20:23101400-23106000	Weak transcription	Adipose Nuclei	Adipose
24	chr20:23101600-23103200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:23101600-23103200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr20:23101600-23104600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr20:23101800-23106000	Weak transcription	Left Ventricle	heart
28	chr20:23101800-23109200	Weak transcription	Right Ventricle	heart
29	chr20:23102000-23104600	Weak transcription	Esophagus	oesophagus
30	chr20:23102000-23105800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr20:23102000-23105800	Weak transcription	Lung	lung
32	chr20:23102000-23106200	Weak transcription	Right Atrium	heart
33	chr20:23102000-23106600	Weak transcription	Spleen	Spleen
34	chr20:23102000-23114000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr20:23102600-23103200	Enhancers	Primary hematopoietic stem cells	blood

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