Variant report

Variant	rs844833
Chromosome Location	chr20:23086083-23086084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23064609..23066913-chr20:23084404..23086526,2	K562	blood:
2	chr20:23046496..23048382-chr20:23085571..23088058,2	MCF-7	breast:
3	chr20:23080717..23083720-chr20:23084515..23087690,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1884657	0.90[EUR][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]
rs844813	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844832	1.00[AFR][1000 genomes];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];0.93[ASN][1000 genomes]
rs844835	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844836	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844837	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844838	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844839	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844841	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844843	0.93[ASN][1000 genomes]
rs844844	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844847	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844849	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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];0.93[ASN][1000 genomes]
rs844868	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844869	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844870	0.84[ASN][1000 genomes]
rs844872	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844873	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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];0.84[ASN][1000 genomes]
rs844881	0.96[EUR][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]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs844833	CD93	cis	Whole Blood	GTEx
rs844833	AL118508.1	cis	Whole Blood	GTEx

Chromatin state (count:33 , 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	chr20:23081000-23086400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr20:23082000-23089000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr20:23082400-23086200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr20:23082400-23088400	Enhancers	Adipose Nuclei	Adipose
7	chr20:23082400-23088400	Enhancers	HUVEC	blood vessel
8	chr20:23082400-23088800	Enhancers	Fetal Muscle Leg	muscle
9	chr20:23082800-23086600	Enhancers	Spleen	Spleen
10	chr20:23083400-23087200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:23083600-23086200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:23084200-23086800	Enhancers	Primary B cells from cord blood	blood
13	chr20:23084200-23088400	Enhancers	Left Ventricle	heart
14	chr20:23084400-23086200	Enhancers	Esophagus	oesophagus
15	chr20:23084400-23088400	Enhancers	Fetal Muscle Trunk	muscle
16	chr20:23084400-23088400	Enhancers	Lung	lung
17	chr20:23084400-23089000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr20:23084600-23086800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr20:23084600-23087200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr20:23085000-23086800	Weak transcription	HSMM	muscle
21	chr20:23085200-23086800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr20:23085200-23086800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr20:23085200-23087000	Weak transcription	Right Atrium	heart
24	chr20:23085200-23087400	Weak transcription	Brain Hippocampus Middle	brain
25	chr20:23085400-23088200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr20:23085600-23088000	Enhancers	Fetal Lung	lung
27	chr20:23085800-23086200	Enhancers	Pancreas	Pancrea
28	chr20:23085800-23086400	Enhancers	Fetal Thymus	thymus
29	chr20:23085800-23086400	Enhancers	Right Ventricle	heart
30	chr20:23085800-23087000	Enhancers	Psoas Muscle	Psoas
31	chr20:23085800-23087400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr20:23085800-23114600	Enhancers	Placenta	Placenta
33	chr20:23086000-23086200	Enhancers	Primary hematopoietic stem cells	blood

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