Variant report

Variant	rs4073573
Chromosome Location	chr2:48717315-48717316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10209255	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11125173	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34461314	0.81[EUR][1000 genomes]
rs4131784	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4528813	0.84[EUR][1000 genomes]
rs4549145	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4641991	0.84[EUR][1000 genomes]
rs4953587	0.84[EUR][1000 genomes]
rs59356309	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6545047	0.82[EUR][1000 genomes]
rs6754946	0.82[EUR][1000 genomes]
rs72822226	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72822230	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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
rs4073573	PPP1R21	cis	Thyroid	GTEx
rs4073573	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:48689200-48735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:48690000-48735600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:48694000-48729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
6	chr2:48695200-48723800	Weak transcription	Gastric	stomach
7	chr2:48695200-48725800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:48695200-48728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:48695400-48728000	Weak transcription	Hela-S3	cervix
10	chr2:48695600-48735200	Weak transcription	K562	blood
11	chr2:48696200-48721000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:48696400-48721600	Weak transcription	Left Ventricle	heart
13	chr2:48696400-48723800	Weak transcription	Aorta	Aorta
14	chr2:48698600-48723200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:48698800-48729200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:48698800-48735400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:48700200-48735400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:48700600-48718400	Strong transcription	Primary T cells from cord blood	blood
19	chr2:48700600-48735600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:48703200-48723400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:48703200-48729800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:48704000-48718600	Strong transcription	Fetal Thymus	thymus
23	chr2:48704000-48735800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:48704400-48718600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:48704400-48730000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:48704600-48735400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:48704600-48735600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:48706600-48728000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:48707400-48742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:48707600-48725800	Weak transcription	Small Intestine	intestine
31	chr2:48707600-48725800	Weak transcription	HMEC	breast
32	chr2:48707800-48725600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:48708000-48724600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:48708000-48725800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:48708400-48725600	Weak transcription	Pancreas	Pancrea
36	chr2:48708400-48735400	Weak transcription	Stomach Mucosa	stomach
37	chr2:48708800-48721800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:48710000-48719800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:48710200-48745000	Weak transcription	Fetal Brain Male	brain
41	chr2:48710400-48735400	Weak transcription	NHLF	lung
42	chr2:48710600-48718400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr2:48710800-48721800	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:48710800-48722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:48710800-48725600	Weak transcription	HUVEC	blood vessel
46	chr2:48711000-48721800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:48711400-48721000	Weak transcription	Lung	lung
48	chr2:48711400-48721800	Weak transcription	Fetal Lung	lung
49	chr2:48711400-48723800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:48711400-48725800	Weak transcription	Fetal Kidney	kidney

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