Variant report

Variant	rs844820
Chromosome Location	chr20:23082108-23082109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23080110..23082822-chr20:23132025..23133564,2	K562	blood:
2	chr20:23080717..23083720-chr20:23084515..23087690,4	K562	blood:
3	chr20:23074883..23076456-chr20:23081289..23084171,2	MCF-7	breast:
4	chr20:23029285..23030883-chr20:23079788..23082337,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1884657	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs699796	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs699797	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs699798	0.92[CEU][hapmap]
rs844811	1.00[AFR][1000 genomes]
rs844813	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844834	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844835	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844836	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844837	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844838	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844839	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844841	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844843	1.00[ASN][1000 genomes]
rs844844	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844847	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844849	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844868	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844869	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844870	0.90[ASN][1000 genomes]
rs844872	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844873	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844876	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs844880	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844881	0.96[EUR][1000 genomes]
rs844882	1.00[AFR][1000 genomes]
rs844884	0.96[EUR][1000 genomes]
rs844885	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs844886	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs844887	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs844888	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs844889	0.92[CEU][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];1.00[CHB][hapmap]
rs946370	1.00[AFR][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	esv2762066	chr20:23082036-23092700	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs844820	CD93	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23072800-23092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23073000-23087000	Weak transcription	Gastric	stomach
3	chr20:23073800-23085800	Weak transcription	Right Ventricle	heart
4	chr20:23074600-23082200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:23074600-23083000	Weak transcription	Right Atrium	heart
6	chr20:23075000-23083000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:23075000-23085600	Weak transcription	Fetal Lung	lung
8	chr20:23076600-23082400	Weak transcription	HUVEC	blood vessel
9	chr20:23077400-23084800	Enhancers	Placenta	Placenta
10	chr20:23077800-23082400	Weak transcription	Left Ventricle	heart
11	chr20:23079000-23084400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr20:23079200-23082600	Weak transcription	Lung	lung
13	chr20:23079200-23083400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr20:23079800-23083400	Enhancers	Esophagus	oesophagus
15	chr20:23080000-23082200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:23080000-23082200	Enhancers	HMEC	breast
17	chr20:23080000-23082600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:23081000-23082400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr20:23081000-23082800	Weak transcription	Spleen	Spleen
20	chr20:23081000-23085800	Weak transcription	Fetal Thymus	thymus
21	chr20:23081000-23086400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr20:23081200-23082200	Enhancers	NHEK	skin
23	chr20:23081200-23082400	Weak transcription	Adipose Nuclei	Adipose
24	chr20:23081400-23082400	Weak transcription	Fetal Muscle Leg	muscle
25	chr20:23081400-23083000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:23081600-23085800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr20:23081800-23082200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr20:23081800-23082400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:23082000-23082400	Weak transcription	Fetal Stomach	stomach
30	chr20:23082000-23089000	Enhancers	Primary monocytes fromperipheralblood	blood

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