Variant report

Variant	rs949866
Chromosome Location	chr1:220146343-220146344
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr1:220146251-220146954	PBDE	blood:	n/a	n/a
2	POLR2A	chr1:220145349-220147798	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220139066..220142338-chr1:220143870..220147751,4	K562	blood:
2	chr1:220144163..220148221-chr1:220163054..220166012,3	K562	blood:

Variant related genes	Relation type
EPRS	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10495142	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1061242	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061248	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735497	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746393	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746394	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10779388	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779389	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779390	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863518	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863519	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863520	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863521	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118468	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118469	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11118470	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118472	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118473	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11118474	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118476	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118477	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118480	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11811258	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032866	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032898	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039217	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12045445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12049352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098052	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409750	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726890	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1353720	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1391566	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17006909	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1846254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846255	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874811	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874812	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874813	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874814	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027504	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030078	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030079	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047450	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2047451	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2133194	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2133195	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2173403	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2270710	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2270712	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789784	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28473426	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28602468	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34309222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35195138	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3816993	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816994	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4263999	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323718	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4385715	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531301	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536003	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4614265	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846608	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6661109	0.84[EUR][1000 genomes]
rs6663868	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6663947	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6663964	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6686085	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699954	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7521388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521682	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527659	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7527749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534891	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535650	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535773	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536968	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7539385	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539937	0.85[EUR][1000 genomes]
rs7553236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	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
rs949866	EPRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220139400-220154000	Weak transcription	Fetal Lung	lung
3	chr1:220140000-220167400	Weak transcription	Gastric	stomach
4	chr1:220140200-220151800	Weak transcription	NHLF	lung
5	chr1:220140200-220157600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:220140200-220160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:220140400-220154200	Weak transcription	Esophagus	oesophagus
8	chr1:220140600-220162400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:220140600-220162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:220140600-220163000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:220140800-220146800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:220140800-220146800	Weak transcription	Fetal Heart	heart
13	chr1:220140800-220147000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:220140800-220150000	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:220140800-220150800	Strong transcription	Left Ventricle	heart
16	chr1:220140800-220161800	Strong transcription	Fetal Thymus	thymus
17	chr1:220140800-220162400	Strong transcription	Fetal Intestine Large	intestine
18	chr1:220140800-220162400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:220140800-220163200	Strong transcription	Primary T cells from cord blood	blood
20	chr1:220140800-220164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:220141000-220146400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:220141000-220146600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:220141000-220146800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:220141000-220146800	Strong transcription	Liver	Liver
27	chr1:220141000-220147200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:220141000-220149800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:220141000-220158000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:220141000-220163000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:220141000-220163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:220141000-220163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:220141200-220147000	Strong transcription	NH-A	brain
34	chr1:220141200-220152000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:220141200-220158200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:220141200-220162000	Strong transcription	Adipose Nuclei	Adipose
37	chr1:220141200-220162800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:220141200-220163200	Strong transcription	HSMM	muscle
39	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
40	chr1:220141400-220146600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:220141400-220146800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr1:220141400-220150000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:220141400-220161800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:220141400-220162000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:220141400-220162200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:220141400-220162200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:220141400-220163400	Strong transcription	Dnd41	blood
48	chr1:220141400-220165400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:220141600-220147000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:220141600-220158000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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