Variant report

Variant	rs4528813
Chromosome Location	chr2:48738687-48738688
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10209255	0.85[EUR][1000 genomes]
rs11125173	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs12615167	0.88[ASN][1000 genomes]
rs12616834	0.94[EUR][1000 genomes]
rs12618125	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13410391	0.92[EUR][1000 genomes]
rs2177487	0.86[EUR][1000 genomes]
rs2177488	0.86[EUR][1000 genomes]
rs34461314	0.97[EUR][1000 genomes]
rs4073573	0.84[EUR][1000 genomes]
rs4131784	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs4293602	0.93[CHB][hapmap];0.90[ASN][1000 genomes]
rs4497915	0.82[JPT][hapmap]
rs4597580	0.94[ASN][1000 genomes]
rs4641991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952914	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4952915	0.85[ASN][1000 genomes]
rs4953579	0.86[CHB][hapmap]
rs4953587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59356309	0.86[EUR][1000 genomes]
rs6545046	0.86[ASN][1000 genomes]
rs6545047	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6754946	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72822226	0.85[EUR][1000 genomes]
rs72822230	0.86[EUR][1000 genomes]
rs7569575	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4528813	PPP1R21	cis	Thyroid	GTEx
rs4528813	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
2	chr2:48707400-48742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:48710200-48745000	Weak transcription	Fetal Brain Male	brain
5	chr2:48722600-48741800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:48723800-48748200	Strong transcription	GM12878-XiMat	blood
7	chr2:48726200-48742400	Weak transcription	Colonic Mucosa	Colon
8	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:48728200-48756800	Weak transcription	HMEC	breast
10	chr2:48728800-48741800	Weak transcription	Spleen	Spleen
11	chr2:48729000-48742800	Weak transcription	Right Ventricle	heart
12	chr2:48729600-48742800	Weak transcription	Esophagus	oesophagus
13	chr2:48732200-48751400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:48732400-48740000	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:48732400-48743400	Strong transcription	Primary hematopoietic stem cells	blood
16	chr2:48732400-48749600	Strong transcription	Primary B cells from cord blood	blood
17	chr2:48732800-48740000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:48733400-48742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:48734200-48739800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr2:48735200-48739600	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:48735400-48740200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:48735400-48740400	Strong transcription	Brain Germinal Matrix	brain
23	chr2:48735600-48740200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:48736000-48739200	Weak transcription	Brain Angular Gyrus	brain
25	chr2:48736000-48741800	Weak transcription	Fetal Brain Female	brain
26	chr2:48736000-48742800	Weak transcription	Aorta	Aorta
27	chr2:48736000-48742800	Weak transcription	Gastric	stomach
28	chr2:48736000-48742800	Weak transcription	Ovary	ovary
29	chr2:48736000-48742800	Weak transcription	Pancreas	Pancrea
30	chr2:48736000-48752800	Weak transcription	Small Intestine	intestine
31	chr2:48736200-48739400	Weak transcription	A549	lung
32	chr2:48736200-48740000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:48736200-48749400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:48736200-48749400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:48736400-48739000	Weak transcription	NHLF	lung
36	chr2:48736400-48739200	Weak transcription	Fetal Lung	lung
37	chr2:48736400-48739400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:48736400-48740000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:48736400-48742600	Weak transcription	Stomach Mucosa	stomach
40	chr2:48736400-48748400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:48736400-48749600	Strong transcription	Liver	Liver
42	chr2:48736400-48750000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:48736400-48752600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:48736400-48753400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:48736400-48754600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:48736600-48739000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:48736600-48746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:48736600-48749600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:48736600-48749800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:48736800-48747200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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