Variant report

Variant	rs844813
Chromosome Location	chr20:23078996-23078997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23069239..23071325-chr20:23078178..23079925,2	K562	blood:
2	chr20:23077030..23079208-chr20:23089965..23091827,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1884655	0.92[JPT][hapmap];1.00[MEX][hapmap]
rs1884657	0.90[EUR][1000 genomes]
rs6036306	0.92[JPT][hapmap];1.00[MEX][hapmap]
rs699796	0.92[CEU][hapmap]
rs699797	0.92[CEU][hapmap]
rs699798	0.92[CEU][hapmap]
rs844820	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844824	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844832	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844833	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844834	0.97[EUR][1000 genomes]
rs844835	0.97[EUR][1000 genomes]
rs844836	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844837	0.90[EUR][1000 genomes]
rs844838	0.97[EUR][1000 genomes]
rs844839	0.97[EUR][1000 genomes]
rs844841	0.97[EUR][1000 genomes]
rs844844	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs844847	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs844849	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs844867	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs844868	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs844869	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs844872	0.96[EUR][1000 genomes]
rs844873	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs844876	0.83[EUR][1000 genomes]
rs844880	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs844881	0.96[EUR][1000 genomes]
rs844884	0.96[EUR][1000 genomes]
rs844885	0.92[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs844886	0.92[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs844887	0.92[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs844888	0.92[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs844889	0.92[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs844891	0.86[CEU][hapmap];0.95[EUR][1000 genomes]
rs844892	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs844895	0.92[CEU][hapmap]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs844813	CD93	cis	Whole Blood	GTEx
rs844813	AL118508.1	cis	Whole Blood	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23069000-23080400	Weak transcription	Fetal Thymus	thymus
2	chr20:23072800-23092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:23073000-23087000	Weak transcription	Gastric	stomach
4	chr20:23073800-23079400	Enhancers	Esophagus	oesophagus
5	chr20:23073800-23085800	Weak transcription	Right Ventricle	heart
6	chr20:23074600-23080400	Weak transcription	Spleen	Spleen
7	chr20:23074600-23082200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:23074600-23083000	Weak transcription	Right Atrium	heart
9	chr20:23075000-23079000	Enhancers	HMEC	breast
10	chr20:23075000-23083000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr20:23075000-23085600	Weak transcription	Fetal Lung	lung
12	chr20:23076200-23079200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr20:23076600-23082400	Weak transcription	HUVEC	blood vessel
14	chr20:23076800-23079200	Enhancers	Lung	lung
15	chr20:23077400-23079200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:23077400-23084800	Enhancers	Placenta	Placenta
17	chr20:23077600-23079000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:23077600-23079000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr20:23077800-23080600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr20:23077800-23082400	Weak transcription	Left Ventricle	heart
21	chr20:23078200-23079400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr20:23078600-23079000	Enhancers	Fetal Muscle Trunk	muscle
23	chr20:23078600-23079200	Enhancers	Adipose Nuclei	Adipose
24	chr20:23078800-23079200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr20:23078800-23080000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:23078800-23080000	Weak transcription	NHEK	skin

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