Variant report

Variant	rs844872
Chromosome Location	chr20:23101571-23101572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23099688..23102683-chr20:23112408..23115476,3	K562	blood:
2	chr20:23099426..23103463-chr20:23105068..23107847,3	K562	blood:
3	chr20:23095163..23098462-chr20:23100135..23102327,3	K562	blood:

Variant related genes	Relation type
ENSG00000233746	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1884657	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs844813	0.96[EUR][1000 genomes]
rs844820	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844824	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844832	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844833	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844834	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844835	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844836	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844837	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844838	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844839	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844841	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844843	1.00[ASN][1000 genomes]
rs844844	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844847	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844849	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844867	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844868	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844869	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844870	0.90[ASN][1000 genomes]
rs844873	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844876	0.87[EUR][1000 genomes]
rs844880	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844881	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844884	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844885	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844886	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844887	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844888	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844889	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844891	0.99[EUR][1000 genomes]
rs844892	0.87[EUR][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs844872	AL118508.1	cis	Whole Blood	GTEx
rs844872	CD93	cis	Whole Blood	GTEx

Chromatin state (count:37 , 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	chr20:23096000-23102600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr20:23097200-23102000	Enhancers	Fetal Muscle Leg	muscle
5	chr20:23097600-23110200	Weak transcription	Pancreas	Pancrea
6	chr20:23098000-23106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23098800-23101600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:23098800-23102000	Enhancers	Spleen	Spleen
9	chr20:23099200-23101600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr20:23099200-23102000	Enhancers	Esophagus	oesophagus
11	chr20:23099600-23101800	Enhancers	Left Ventricle	heart
12	chr20:23099600-23104600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr20:23099800-23105400	Weak transcription	Gastric	stomach
14	chr20:23100000-23103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr20:23100000-23104000	Weak transcription	GM12878-XiMat	blood
16	chr20:23100200-23102000	Enhancers	Right Atrium	heart
17	chr20:23100200-23102800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr20:23100200-23103400	Weak transcription	Primary B cells from cord blood	blood
19	chr20:23100200-23111200	Enhancers	Fetal Thymus	thymus
20	chr20:23100400-23102000	Enhancers	Lung	lung
21	chr20:23100400-23103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr20:23100400-23106000	Weak transcription	Colonic Mucosa	Colon
23	chr20:23100600-23103200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:23100600-23103200	Flanking Active TSS	Dnd41	blood
25	chr20:23100800-23101600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr20:23100800-23101800	Enhancers	Right Ventricle	heart
27	chr20:23101000-23101800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
28	chr20:23101000-23104400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:23101000-23104600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr20:23101200-23105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr20:23101200-23106600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr20:23101200-23109400	Weak transcription	Liver	Liver
33	chr20:23101400-23101800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr20:23101400-23102000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr20:23101400-23103200	Enhancers	K562	blood
36	chr20:23101400-23105800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr20:23101400-23106000	Weak transcription	Adipose Nuclei	Adipose

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