Variant report

Variant	rs844888
Chromosome Location	chr20:23106737-23106738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23105413..23107552-chr20:23159018..23161237,2	K562	blood:
2	chr20:23106418..23109174-chr20:23126935..23129451,2	K562	blood:
3	chr20:23103623..23110911-chr20:23111294..23114699,12	K562	blood:
4	chr20:23099426..23103463-chr20:23105068..23107847,3	K562	blood:
5	chr20:23087953..23091765-chr20:23104298..23106744,4	K562	blood:
6	chr20:23095719..23097726-chr20:23106686..23108284,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD93-2	chr20:23105705-23107175	ENSG00000233746
2	lnc-CD93-2	chr20:23105705-23107175	XLOC_013689

No data

Variant related genes	Relation type
ENSG00000233746	Chromatin interaction

Extended variants
information (count: 38 )
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];1.00[CHD][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]
rs844885	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]
rs844886	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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[CHD][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[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.92[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: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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs844888	CD93	cis	Whole Blood	GTEx
rs844888	AL118508.1	cis	Whole Blood	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23097600-23110200	Weak transcription	Pancreas	Pancrea
3	chr20:23100200-23111200	Enhancers	Fetal Thymus	thymus
4	chr20:23101200-23109400	Weak transcription	Liver	Liver
5	chr20:23101800-23109200	Weak transcription	Right Ventricle	heart
6	chr20:23102000-23114000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr20:23103200-23109800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:23104000-23108000	Enhancers	Fetal Muscle Trunk	muscle
9	chr20:23104600-23106800	Enhancers	Esophagus	oesophagus
10	chr20:23104600-23106800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr20:23104600-23107200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr20:23104600-23111600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr20:23104800-23107400	Enhancers	Brain Cingulate Gyrus	brain
14	chr20:23105000-23106800	Enhancers	Brain Angular Gyrus	brain
15	chr20:23105000-23106800	Enhancers	Brain Germinal Matrix	brain
16	chr20:23105000-23107200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr20:23105000-23109800	Enhancers	Brain Hippocampus Middle	brain
18	chr20:23105200-23107200	Enhancers	Duodenum Mucosa	Duodenum
19	chr20:23105200-23109200	Weak transcription	Fetal Lung	lung
20	chr20:23105200-23111000	Enhancers	Fetal Muscle Leg	muscle
21	chr20:23105400-23106800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:23105400-23106800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr20:23105400-23107000	Enhancers	Brain Substantia Nigra	brain
24	chr20:23105400-23107600	Enhancers	K562	blood
25	chr20:23105400-23107800	Flanking Active TSS	Dnd41	blood
26	chr20:23105600-23108600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr20:23105800-23106800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr20:23105800-23107000	Enhancers	HSMM	muscle
29	chr20:23105800-23107000	Enhancers	NHDF-Ad	bronchial
30	chr20:23105800-23107400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr20:23105800-23107400	Enhancers	Fetal Heart	heart
32	chr20:23105800-23107600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr20:23105800-23107600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr20:23105800-23107600	Enhancers	GM12878-XiMat	blood
35	chr20:23105800-23107600	Enhancers	NHLF	lung
36	chr20:23105800-23108200	Enhancers	Psoas Muscle	Psoas
37	chr20:23105800-23108400	Enhancers	Lung	lung
38	chr20:23105800-23108600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:23105800-23110000	Enhancers	Primary B cells from cord blood	blood
40	chr20:23105800-23110000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr20:23105800-23111000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr20:23106000-23106800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr20:23106000-23106800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr20:23106000-23106800	Enhancers	Colonic Mucosa	Colon
45	chr20:23106000-23106800	Enhancers	Osteobl	bone
46	chr20:23106000-23107000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr20:23106000-23107000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr20:23106000-23107200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr20:23106000-23107200	Enhancers	HSMMtube	muscle
50	chr20:23106000-23107400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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