Variant report

Variant	rs12048112
Chromosome Location	chr1:220190663-220190664
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	chr1:220190580..220193578-chr1:220217938..220219443,2	K562	blood:
2	chr1:220171119..220172994-chr1:220190101..220193081,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10495143	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10779393	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10863523	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12046562	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12057468	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12058150	0.84[ASN][1000 genomes]
rs1694601	0.82[JPT][hapmap]
rs1768668	0.82[JPT][hapmap]
rs2291836	0.84[ASN][1000 genomes]
rs2291838	0.84[ASN][1000 genomes]
rs2647436	0.82[JPT][hapmap]
rs2789796	0.82[JPT][hapmap]
rs2789799	0.84[JPT][hapmap]
rs3767658	0.83[AMR][1000 genomes]
rs3767669	0.84[ASN][1000 genomes]
rs3767670	0.84[ASN][1000 genomes]
rs3767671	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3820457	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55675937	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57884703	0.81[AMR][1000 genomes]
rs61421597	0.84[ASN][1000 genomes]
rs61830400	0.83[AMR][1000 genomes]
rs61830401	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6669906	0.84[ASN][1000 genomes]
rs6699641	0.84[ASN][1000 genomes]
rs7539497	1.00[CEU][hapmap];0.86[JPT][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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12048112	EPRS	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
3	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:220166000-220198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:220166200-220199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:220166400-220199800	Strong transcription	K562	blood
11	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:220166800-220199000	Strong transcription	Dnd41	blood
16	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
19	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:220169200-220206400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:220174400-220198600	Strong transcription	Primary T cells from cord blood	blood
24	chr1:220176000-220208000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:220176200-220194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:220176400-220208400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:220176600-220200200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:220177600-220197800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:220177600-220205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:220178000-220190800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:220178000-220195400	Weak transcription	Gastric	stomach
32	chr1:220178000-220197400	Weak transcription	Fetal Brain Male	brain
33	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
34	chr1:220178200-220192400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
36	chr1:220179000-220191800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:220179200-220192400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:220179600-220192200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:220180800-220190800	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:220181200-220191000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:220181200-220193000	Weak transcription	Brain Angular Gyrus	brain
42	chr1:220181400-220198600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:220183400-220193000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:220183400-220195200	Weak transcription	Spleen	Spleen
45	chr1:220183600-220193000	Weak transcription	Colonic Mucosa	Colon
46	chr1:220183800-220192400	Weak transcription	Fetal Brain Female	brain
47	chr1:220183800-220192400	Weak transcription	Fetal Lung	lung
48	chr1:220184200-220192200	Weak transcription	Psoas Muscle	Psoas
49	chr1:220184400-220190800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:220184400-220192600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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