Variant report

Variant	rs844808
Chromosome Location	chr20:23075036-23075037
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23074883..23076456-chr20:23081289..23084171,2	MCF-7	breast:
2	chr20:23073207..23075435-chr20:23128612..23131372,2	K562	blood:
3	chr20:23072935..23075069-chr20:23079022..23080703,2	K562	blood:
4	chr20:23073935..23077646-chr20:23127330..23130238,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1884654	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs1884655	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813479	0.83[ASN][1000 genomes]
rs6036306	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs844808	CD93	cis	Whole Blood	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23066000-23075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:23069000-23080400	Weak transcription	Fetal Thymus	thymus
3	chr20:23072000-23075200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr20:23072000-23075600	Enhancers	Psoas Muscle	Psoas
5	chr20:23072400-23077600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr20:23072800-23075800	Weak transcription	Placenta	Placenta
7	chr20:23072800-23092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:23073000-23087000	Weak transcription	Gastric	stomach
9	chr20:23073800-23079400	Enhancers	Esophagus	oesophagus
10	chr20:23073800-23085800	Weak transcription	Right Ventricle	heart
11	chr20:23074200-23075200	Enhancers	Lung	lung
12	chr20:23074400-23075400	Weak transcription	HUVEC	blood vessel
13	chr20:23074600-23075200	Enhancers	Fetal Muscle Trunk	muscle
14	chr20:23074600-23080400	Weak transcription	Spleen	Spleen
15	chr20:23074600-23082200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:23074600-23083000	Weak transcription	Right Atrium	heart
17	chr20:23074800-23075400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr20:23074800-23075600	Enhancers	Brain Germinal Matrix	brain
19	chr20:23074800-23076200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:23075000-23075200	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr20:23075000-23076200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:23075000-23077200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr20:23075000-23079000	Enhancers	HMEC	breast
24	chr20:23075000-23083000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr20:23075000-23085600	Weak transcription	Fetal Lung	lung

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