Variant report

Variant	rs844885
Chromosome Location	chr20:23105180-23105181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23103623..23110911-chr20:23111294..23114699,12	K562	blood:
2	chr20:23099426..23103463-chr20:23105068..23107847,3	K562	blood:
3	chr20:23087953..23091765-chr20:23104298..23106744,4	K562	blood:
4	chr20:23103723..23106528-chr20:23107935..23111054,5	K562	blood:
5	chr20:23102012..23106528-chr20:23108448..23111067,5	K562	blood:

Variant related genes	Relation type
ENSG00000233746	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1884657	0.87[EUR][1000 genomes]
rs699796	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[LWK][hapmap]
rs699797	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[LWK][hapmap]
rs699798	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs844813	0.96[EUR][1000 genomes]
rs844820	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs844824	0.96[EUR][1000 genomes]
rs844832	0.96[EUR][1000 genomes]
rs844833	0.96[EUR][1000 genomes]
rs844834	0.94[EUR][1000 genomes]
rs844835	0.94[EUR][1000 genomes]
rs844836	0.96[EUR][1000 genomes]
rs844837	0.86[EUR][1000 genomes]
rs844838	0.94[EUR][1000 genomes]
rs844839	0.94[EUR][1000 genomes]
rs844841	0.94[EUR][1000 genomes]
rs844844	0.99[EUR][1000 genomes]
rs844847	0.99[EUR][1000 genomes]
rs844849	0.99[EUR][1000 genomes]
rs844867	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs844868	1.00[EUR][1000 genomes]
rs844869	1.00[EUR][1000 genomes]
rs844872	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844873	1.00[EUR][1000 genomes]
rs844876	0.87[EUR][1000 genomes]
rs844880	0.96[EUR][1000 genomes]
rs844881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844886	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844887	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844888	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844889	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844892	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs844895	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[LWK][hapmap]
rs844907	0.86[CEU][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	esv3402233	chr20:23101352-23105550	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs844885	AL118508.1	cis	Whole Blood	GTEx
rs844885	CD93	cis	Whole Blood	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23097600-23110200	Weak transcription	Pancreas	Pancrea
3	chr20:23098000-23106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:23099800-23105400	Weak transcription	Gastric	stomach
5	chr20:23100200-23111200	Enhancers	Fetal Thymus	thymus
6	chr20:23100400-23106000	Weak transcription	Colonic Mucosa	Colon
7	chr20:23101200-23105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr20:23101200-23106600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr20:23101200-23109400	Weak transcription	Liver	Liver
10	chr20:23101400-23105800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr20:23101400-23106000	Weak transcription	Adipose Nuclei	Adipose
12	chr20:23101800-23106000	Weak transcription	Left Ventricle	heart
13	chr20:23101800-23109200	Weak transcription	Right Ventricle	heart
14	chr20:23102000-23105800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr20:23102000-23105800	Weak transcription	Lung	lung
16	chr20:23102000-23106200	Weak transcription	Right Atrium	heart
17	chr20:23102000-23106600	Weak transcription	Spleen	Spleen
18	chr20:23102000-23114000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr20:23103200-23105400	Weak transcription	K562	blood
20	chr20:23103200-23105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:23103200-23105800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr20:23103200-23106000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr20:23103200-23106400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr20:23103200-23109800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:23104000-23105400	Enhancers	GM12878-XiMat	blood
26	chr20:23104000-23105800	Weak transcription	Primary B cells from cord blood	blood
27	chr20:23104000-23108000	Enhancers	Fetal Muscle Trunk	muscle
28	chr20:23104200-23106000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr20:23104400-23105200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:23104600-23106800	Enhancers	Esophagus	oesophagus
31	chr20:23104600-23106800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr20:23104600-23107200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr20:23104600-23111600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr20:23104800-23105800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr20:23104800-23107400	Enhancers	Brain Cingulate Gyrus	brain
36	chr20:23105000-23105200	Enhancers	Fetal Lung	lung
37	chr20:23105000-23105400	Enhancers	Dnd41	blood
38	chr20:23105000-23106000	Enhancers	Fetal Stomach	stomach
39	chr20:23105000-23106600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr20:23105000-23106600	Enhancers	Fetal Intestine Large	intestine
41	chr20:23105000-23106800	Enhancers	Brain Angular Gyrus	brain
42	chr20:23105000-23106800	Enhancers	Brain Germinal Matrix	brain
43	chr20:23105000-23107200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr20:23105000-23109800	Enhancers	Brain Hippocampus Middle	brain

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