Variant report

Variant	rs72822285
Chromosome Location	chr2:48762752-48762753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48761161..48764089-chr2:48767205..48768713,2	K562	blood:
2	chr2:48736001..48737694-chr2:48761849..48763956,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11689512	0.90[ASN][1000 genomes]
rs11695393	0.92[ASN][1000 genomes]
rs72822289	0.83[ASN][1000 genomes]
rs72822291	0.84[ASN][1000 genomes]
rs7587917	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72822285	PPP1R21	cis	Thyroid	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48758000-48766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48758800-48769000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:48758800-48772400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:48759000-48765200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:48759000-48765400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:48759000-48772600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:48759000-48775200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:48759000-48787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:48759000-48787400	Weak transcription	Psoas Muscle	Psoas
10	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:48759200-48766000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:48759200-48767000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:48759200-48793200	Weak transcription	Fetal Lung	lung
14	chr2:48759400-48767000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:48759400-48775200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:48760000-48766200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:48760000-48770800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:48760000-48771000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:48760000-48772000	Weak transcription	Lung	lung
20	chr2:48760000-48772400	Weak transcription	Right Atrium	heart
21	chr2:48760200-48764800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:48760200-48767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:48760200-48767000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:48760400-48767400	Weak transcription	Ovary	ovary
25	chr2:48760400-48772800	Weak transcription	Left Ventricle	heart
26	chr2:48761800-48762800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:48761800-48762800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:48761800-48762800	Strong transcription	Fetal Stomach	stomach
29	chr2:48762000-48767000	Weak transcription	Placenta	Placenta
30	chr2:48762200-48762800	Enhancers	Stomach Smooth Muscle	stomach
31	chr2:48762200-48762800	Enhancers	Spleen	Spleen
32	chr2:48762200-48767600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:48762400-48763400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:48762400-48767400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:48762600-48769000	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:48762600-48775000	Weak transcription	H1 Cell Line	embryonic stem cell

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