Variant report

Variant	rs189593
Chromosome Location	chr1:55972596-55972597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:55970974..55974627-chr1:55975213..55978660,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1321119	1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs183065	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs356089	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs356091	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs356114	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs356115	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs356116	0.85[EUR][1000 genomes]
rs356117	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs356120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs692758	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs769895	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1008241	chr1:55922008-55972596	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs189593	PRKAA2	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:55966400-55974000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:55969000-55973600	Enhancers	NHLF	lung
3	chr1:55969000-55974400	Enhancers	NHDF-Ad	bronchial
4	chr1:55969800-55972600	Weak transcription	Fetal Kidney	kidney
5	chr1:55970000-55973200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:55970000-55977400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:55970400-55972600	Enhancers	Colonic Mucosa	Colon
8	chr1:55970600-55973000	Weak transcription	Ovary	ovary
9	chr1:55970600-55973200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:55970600-55978800	Weak transcription	Aorta	Aorta
11	chr1:55970800-55975400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:55971200-55973400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr1:55971400-55973800	Enhancers	Fetal Stomach	stomach
14	chr1:55971400-55974000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr1:55971600-55973600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:55971600-55973600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:55971800-55973800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:55972000-55972600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:55972000-55972600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:55972000-55973200	Enhancers	Fetal Lung	lung
21	chr1:55972000-55973600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:55972000-55973600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:55972000-55973800	Enhancers	Osteobl	bone
24	chr1:55972200-55972600	Flanking Active TSS	A549	lung
25	chr1:55972200-55973400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:55972200-55973400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:55972200-55973600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:55972200-55973600	Enhancers	HSMM	muscle
29	chr1:55972200-55973800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:55972400-55972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:55972400-55972800	Flanking Active TSS	Hela-S3	cervix
32	chr1:55972400-55972800	Enhancers	HSMMtube	muscle
33	chr1:55972400-55973000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:55972400-55973400	Enhancers	Brain Hippocampus Middle	brain
35	chr1:55972400-55973400	Enhancers	Colon Smooth Muscle	Colon
36	chr1:55972400-55973400	Enhancers	Fetal Muscle Leg	muscle
37	chr1:55972400-55973400	Enhancers	NH-A	brain
38	chr1:55972400-55973800	Enhancers	HMEC	breast

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