Variant report

Variant	rs844838
Chromosome Location	chr20:23088876-23088877
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23088338..23089890-chr20:23107180..23109300,2	MCF-7	breast:
2	chr20:23087953..23091765-chr20:23104298..23106744,4	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1884657	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs699796	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs699797	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs699798	0.91[CEU][hapmap]
rs844813	0.97[EUR][1000 genomes]
rs844820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844824	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844832	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844833	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844834	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844836	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844837	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844843	1.00[ASN][1000 genomes]
rs844844	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844847	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844849	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844868	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844869	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844870	0.90[ASN][1000 genomes]
rs844872	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844873	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844876	0.81[EUR][1000 genomes]
rs844880	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844881	0.94[EUR][1000 genomes]
rs844882	0.81[CEU][hapmap]
rs844884	0.94[EUR][1000 genomes]
rs844885	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs844886	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs844887	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs844888	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs844889	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs844891	0.86[CEU][hapmap];0.92[EUR][1000 genomes]
rs844892	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs844895	0.91[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs844838	CD93	cis	Whole Blood	GTEx

Chromatin state (count:23 , 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	chr20:23082000-23089000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:23084400-23089000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr20:23085800-23114600	Enhancers	Placenta	Placenta
5	chr20:23086200-23092800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr20:23086200-23094200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr20:23086400-23091400	Weak transcription	Fetal Thymus	thymus
8	chr20:23087000-23089200	Enhancers	Spleen	Spleen
9	chr20:23087000-23093800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr20:23087600-23091200	Weak transcription	Dnd41	blood
11	chr20:23087600-23092000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr20:23088000-23089000	Weak transcription	Fetal Lung	lung
13	chr20:23088000-23100000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr20:23088200-23094000	Weak transcription	Primary B cells from cord blood	blood
15	chr20:23088200-23094800	Weak transcription	Right Atrium	heart
16	chr20:23088200-23095000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr20:23088200-23096800	Weak transcription	Esophagus	oesophagus
18	chr20:23088400-23089600	Weak transcription	Fetal Stomach	stomach
19	chr20:23088400-23089600	Weak transcription	Lung	lung
20	chr20:23088400-23093600	Weak transcription	Adipose Nuclei	Adipose
21	chr20:23088400-23094400	Weak transcription	Left Ventricle	heart
22	chr20:23088600-23090000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr20:23088800-23093400	Weak transcription	Fetal Muscle Leg	muscle

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