Variant report

Variant	rs1884654
Chromosome Location	chr20:23069201-23069202
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23068836..23070645-chr20:23109664..23111369,2	K562	blood:
2	chr20:23046148..23048571-chr20:23068060..23069744,2	K562	blood:
3	chr20:23067329..23069872-chr20:23071485..23073602,2	MCF-7	breast:
4	chr20:23068190..23071729-chr20:23127032..23130141,4	K562	blood:
5	chr20:23068148..23069652-chr20:23071851..23074336,2	K562	blood:
6	chr20:23068076..23069690-chr20:23128418..23130201,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1884655	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs6036306	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs6132562	0.91[CHB][hapmap]
rs844808	0.93[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	nsv526474	chr20:23065209-23073904	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1884654	CD93	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23064000-23072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:23064200-23072000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:23064200-23072400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr20:23066000-23075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:23067000-23072000	Weak transcription	Pancreas	Pancrea
6	chr20:23067000-23073800	Weak transcription	Esophagus	oesophagus
7	chr20:23067200-23071400	Weak transcription	Ovary	ovary
8	chr20:23067200-23072200	Weak transcription	Lung	lung
9	chr20:23067400-23069400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr20:23067400-23069400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:23067400-23072400	Weak transcription	Fetal Lung	lung
12	chr20:23067600-23069400	Enhancers	Primary hematopoietic stem cells	blood
13	chr20:23067800-23069400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:23067800-23069600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr20:23067800-23069600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr20:23067800-23072400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr20:23068400-23072400	Weak transcription	Left Ventricle	heart
18	chr20:23068400-23072400	Weak transcription	Right Atrium	heart
19	chr20:23068400-23072400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr20:23068600-23069600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr20:23068600-23069600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr20:23068600-23071000	Weak transcription	HUVEC	blood vessel
23	chr20:23068600-23073600	Weak transcription	Spleen	Spleen
24	chr20:23068800-23072600	Weak transcription	Adipose Nuclei	Adipose
25	chr20:23068800-23072800	Enhancers	K562	blood
26	chr20:23069000-23069400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr20:23069000-23072400	Weak transcription	Placenta	Placenta
28	chr20:23069000-23080400	Weak transcription	Fetal Thymus	thymus
29	chr20:23069200-23069600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr20:23069200-23072200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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