Variant report

Variant	rs62183467
Chromosome Location	chr2:172292215-172292216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr2:172291745-172292251	GM12878	blood:	n/a	n/a
2	MXI1	chr2:172292087-172292281	K562	blood:	n/a	n/a
3	MXI1	chr2:172289497-172292342	SK-N-SH	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172289860..172292485-chr2:175259037..175261189,2	MCF-7	breast:
2	chr2:171784160..171787954-chr2:172288133..172292253,10	K562	blood:
3	chr2:172289123..172292836-chr2:172306272..172310763,6	K562	blood:
4	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:
5	chr2:172288832..172292910-chr2:172322388..172326341,4	K562	blood:
6	chr2:172289876..172292562-chr2:172333814..172336703,3	K562	blood:
7	chr2:172014091..172018646-chr2:172288530..172293107,15	MCF-7	breast:
8	chr2:172013226..172020125-chr2:172287594..172292844,18	MCF-7	breast:
9	chr2:171894172..171896677-chr2:172291398..172293254,2	MCF-7	breast:
10	chr2:172013756..172019540-chr2:172285624..172293532,16	K562	blood:
11	chr2:172287467..172293160-chr2:172293206..172300397,21	K562	blood:
12	chr2:172288511..172290810-chr2:172291343..172292925,2	K562	blood:
13	chr2:172288399..172293582-chr2:172376630..172381034,10	K562	blood:
14	chr2:172289880..172292267-chr2:172966936..172969958,3	K562	blood:

No data

Variant related genes	Relation type
METTL8	TF binding region
ENSG00000233762	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000138433	Chromatin interaction
ENSG00000115844	Chromatin interaction
ENSG00000198586	Chromatin interaction
ENSG00000071967	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000144306	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10445722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10515933	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12151641	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1558936	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17220419	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17220440	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17220608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17220657	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17220699	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17220734	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17221367	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17221402	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17221619	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17286415	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17286660	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1861899	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1981788	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2356781	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36112363	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3731981	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3731982	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3731983	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3731985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3795998	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3821084	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4417688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4458186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4496302	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4522571	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4668385	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4668386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668387	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56410960	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57099324	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58536060	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59960186	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60439518	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62181352	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62183468	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62183470	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62183471	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62183472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62183492	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62183493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62183494	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183497	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183498	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183499	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183502	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183503	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183506	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183507	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62183539	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433290	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6433292	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6713612	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6720250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6740733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6741806	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6743290	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568037	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7572334	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7576894	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7598137	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7606658	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9678149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9678164	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9679537	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789572	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9789596	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers 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 target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62183467	METTL8	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172289000-172292400	Active TSS	GM12878-XiMat	blood
2	chr2:172289200-172292400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:172289400-172292400	Active TSS	Fetal Brain Female	brain
4	chr2:172289400-172292400	Active TSS	A549	lung
5	chr2:172289800-172292400	Active TSS	HMEC	breast
6	chr2:172290000-172292400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
8	chr2:172291400-172292400	Flanking Active TSS	Dnd41	blood
9	chr2:172291400-172295200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:172291400-172296200	Weak transcription	Lung	lung
11	chr2:172291400-172296200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:172291400-172296200	Weak transcription	Spleen	Spleen
13	chr2:172291400-172296400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:172291400-172296400	Weak transcription	Aorta	Aorta
15	chr2:172291400-172296400	Weak transcription	Small Intestine	intestine
16	chr2:172291400-172297800	Weak transcription	Esophagus	oesophagus
17	chr2:172291400-172297800	Weak transcription	Gastric	stomach
18	chr2:172291600-172292400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:172291600-172292400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:172291600-172292400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:172291600-172292400	Weak transcription	Placenta	Placenta
22	chr2:172291600-172292600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:172291600-172292800	Weak transcription	Left Ventricle	heart
24	chr2:172291600-172293400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:172291600-172295200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:172291600-172295200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:172291600-172295200	Weak transcription	Ovary	ovary
28	chr2:172291600-172296000	Weak transcription	Right Ventricle	heart
29	chr2:172291600-172297800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:172291600-172304000	Weak transcription	Pancreas	Pancrea
31	chr2:172291600-172305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
33	chr2:172291800-172292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:172291800-172292400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:172291800-172292400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:172291800-172292400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:172291800-172292400	Enhancers	Brain Angular Gyrus	brain
38	chr2:172291800-172292400	Enhancers	Brain Substantia Nigra	brain
39	chr2:172291800-172292400	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:172291800-172292400	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:172291800-172292400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:172291800-172292400	Strong transcription	HSMM	muscle
43	chr2:172291800-172292400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:172291800-172292600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:172291800-172292600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:172291800-172292600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:172291800-172292600	Weak transcription	Liver	Liver
48	chr2:172291800-172292600	Enhancers	Fetal Intestine Small	intestine
49	chr2:172291800-172292800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr2:172291800-172292800	Weak transcription	Primary B cells from peripheral blood	blood

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