Variant report

Variant	rs2789784
Chromosome Location	chr1:220132365-220132366
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:220131978-220132488	K562	blood:	n/a	n/a
2	KAP1	chr1:220131954-220133477	U2OS	brain:	n/a	n/a
3	GATA3	chr1:220132276-220132710	T-47D	breast:	n/a	n/a
4	KAP1	chr1:220131650-220133464	HEK293	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:220132315-220132365	GM12878	blood:	n/a
2	chr1:220132315-220132365	Caco-2	colon:	n/a
3	chr1:220132315-220132365	HRCEpiC	kidney:	n/a
4	chr1:220132315-220132365	HRE	kidney:	n/a
5	chr1:220132315-220132365	HMEC	breast:	n/a
6	chr1:220132315-220132365	HIPEpiC	eye:	n/a
7	chr1:220132315-220132365	PrEC	prostate:	n/a
8	chr1:220132315-220132365	HEEpiC	esophagus:	n/a
9	chr1:220132315-220132365	HEK293	kidney:	embryo
10	chr1:220132315-220132365	NT2-D1	testis:	n/a
11	chr1:220132315-220132365	ProgFib	skin:	n/a
12	chr1:220132315-220132365	LNCaP	prostate:	n/a
13	chr1:220132315-220132365	PANC-1	pancreas:	n/a
14	chr1:220132315-220132365	HUVEC	blood vessel:	n/a
15	chr1:220132315-220132365	AoSMC	blood vessel:	n/a
16	chr1:220132315-220132365	IMR90	lung:	fetal
17	chr1:220132315-220132365	AG09319	gingival:	n/a
18	chr1:220132315-220132365	AG04449	skin:	fetal
19	chr1:220132315-220132365	U87	brain:	n/a
20	chr1:220132315-220132365	Hepatocyte	liver:	n/a
21	chr1:220132315-220132365	K562	blood:	n/a
22	chr1:220132315-220132365	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:220132315-220132365	SK-N-MC	brain:	n/a
24	chr1:220132315-220132365	AG10803	skin:	n/a
25	chr1:220132315-220132365	NH-A	brain:	n/a
26	chr1:220132315-220132365	HCF	heart:	n/a
27	chr1:220132315-220132365	BE2_C	brain:	n/a
28	chr1:220132315-220132365	GM12892	blood:	n/a
29	chr1:220132315-220132365	Hela-S3	cervix:	n/a
30	chr1:220132315-220132365	ECC-1	luminal epithelium:	n/a
31	chr1:220132315-220132365	HAEpiC	amniotic membrane:	n/a
32	chr1:220132315-220132365	A549	lung:	n/a
33	chr1:220132315-220132365	GM06990	blood:	n/a
34	chr1:220132315-220132365	HNPCEpiC	eye:	n/a
35	chr1:220132315-220132365	MCF-7	breast:	n/a
36	chr1:220132315-220132365	SK-N-SH_RA	brain:	n/a
37	chr1:220132315-220132365	HCPEpiC	choroid plexus:	n/a
38	chr1:220132315-220132365	MCF10A-Er-Src	breast:	n/a
39	chr1:220132315-220132365	SKMC	muscle:	n/a
40	chr1:220132315-220132365	RPTEC	kidney:	n/a
41	chr1:220132315-220132365	SK-N-SH	brain:	n/a
42	chr1:220132315-220132365	HRPEpiC	eye:	n/a
43	chr1:220132315-220132365	ovcar-3	ovarian:	n/a
44	chr1:220132315-220132365	HepG2	liver:	n/a
45	chr1:220132315-220132365	NB4	blood:	n/a
46	chr1:220132315-220132365	AG04450	lung:	fetal
47	chr1:220132315-220132365	Jurkat	blood:	n/a
48	chr1:220132315-220132365	CMK	blood:	n/a
49	chr1:220132315-220132365	H1-hESC	embryonic stem cell:	embryo
50	chr1:220132315-220132365	T-47D	breast:	n/a

No data

Variant related genes	Relation type
SLC30A10	TF binding region
ENSG00000221673	TF binding region
ENSG00000221673	CpG island
SLC30A10	CpG island

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10495142	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061242	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1061248	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10735497	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10746393	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10746394	0.86[EUR][1000 genomes]
rs10779388	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10779389	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10779390	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10779391	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863518	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863519	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10863520	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863521	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118468	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118469	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118470	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118472	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118473	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118474	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118476	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11118477	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11118480	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11811258	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12032866	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12032898	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12039217	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045445	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12049352	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12098052	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12126940	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12409750	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12726890	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1353720	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391566	0.84[EUR][1000 genomes]
rs17006909	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1846254	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1846255	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1874811	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874812	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874813	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874814	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1982984	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1982986	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2027504	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2030078	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2030079	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2047450	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047451	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2133194	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2133195	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2173403	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2270710	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2270712	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28473426	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28602468	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34309222	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35195138	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3816993	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3816994	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4263999	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4323718	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385715	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4531301	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4536003	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4614265	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4846608	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661109	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663868	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663947	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663964	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686085	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6699954	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521388	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7521682	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7527659	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7527749	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7534891	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7535650	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7535767	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7535773	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7536968	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7539385	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7539937	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7553236	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs949866	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2789784	EPRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220129200-220145800	Weak transcription	HepG2	liver
2	chr1:220129400-220133000	Weak transcription	Small Intestine	intestine
3	chr1:220130200-220132400	Active TSS	Fetal Intestine Large	intestine
4	chr1:220132000-220132600	Active TSS	Duodenum Mucosa	Duodenum
5	chr1:220132000-220133400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr1:220132000-220138800	Weak transcription	Aorta	Aorta
7	chr1:220132200-220132400	Enhancers	Colonic Mucosa	Colon
8	chr1:220132200-220132600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:220132200-220132600	Flanking Active TSS	Fetal Intestine Small	intestine
10	chr1:220132200-220132800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
11	chr1:220132200-220132800	ZNF genes & repeats	K562	blood
12	chr1:220132200-220144200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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