Variant report

Variant	rs3917729
Chromosome Location	chr1:169581130-169581131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169564132..169566509-chr1:169578988..169581892,2	K562	blood:
2	chr1:169575727..169578687-chr1:169579163..169582225,3	K562	blood:
3	chr1:169580882..169585091-chr1:169587132..169592638,6	K562	blood:

Variant related genes	Relation type
ENSG00000174175	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1011266	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10919204	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10919207	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10919208	0.81[ASN][1000 genomes]
rs10919214	0.81[ASN][1000 genomes]
rs10919216	0.81[ASN][1000 genomes]
rs10919219	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11487513	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12067152	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12076747	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12081319	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12087424	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12116948	0.81[ASN][1000 genomes]
rs12116974	0.82[ASN][1000 genomes]
rs12123695	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12126695	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12131631	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12137905	1.00[YRI][hapmap]
rs12140128	0.82[ASN][1000 genomes]
rs1569457	1.00[YRI][hapmap]
rs1569474	0.82[ASN][1000 genomes]
rs1569476	0.86[ASN][1000 genomes]
rs1800015	1.00[YRI][hapmap]
rs1800016	1.00[YRI][hapmap]
rs1800805	0.85[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1800808	0.92[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805193	1.00[YRI][hapmap]
rs2235302	0.93[ASN][1000 genomes]
rs2235303	0.83[ASN][1000 genomes]
rs2235304	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2236868	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs28409897	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3917392	1.00[YRI][hapmap]
rs3917400	1.00[YRI][hapmap]
rs3917410	1.00[YRI][hapmap]
rs3917411	1.00[YRI][hapmap]
rs3917417	1.00[YRI][hapmap]
rs3917425	1.00[YRI][hapmap]
rs3917427	1.00[YRI][hapmap]
rs3917441	1.00[YRI][hapmap]
rs3917452	1.00[YRI][hapmap]
rs3917453	1.00[YRI][hapmap]
rs3917655	0.90[ASN][1000 genomes]
rs3917657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3917675	0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3917681	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3917682	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3917702	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3917706	1.00[AFR][1000 genomes]
rs3917709	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4987299	1.00[YRI][hapmap]
rs4987302	1.00[YRI][hapmap]
rs4987304	1.00[YRI][hapmap]
rs4987307	1.00[YRI][hapmap]
rs4987308	1.00[YRI][hapmap]
rs4987317	1.00[YRI][hapmap]
rs4987323	1.00[YRI][hapmap]
rs4987324	1.00[YRI][hapmap]
rs4987325	1.00[YRI][hapmap]
rs4987340	1.00[YRI][hapmap]
rs4987345	1.00[YRI][hapmap]
rs4987363	1.00[YRI][hapmap]
rs4987381	1.00[YRI][hapmap]
rs4987395	1.00[YRI][hapmap]
rs5357	1.00[YRI][hapmap]
rs5361	1.00[YRI][hapmap]
rs5362	1.00[YRI][hapmap]
rs5363	1.00[YRI][hapmap]
rs5367	1.00[YRI][hapmap]
rs58647626	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60035985	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6131	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs66920835	0.86[ASN][1000 genomes]
rs909628	1.00[YRI][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv517483	chr1:169576568-169581258	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3917729	METTL18	cis	Adipose Subcutaneous	GTEx
rs3917729	METTL18	cis	Artery Aorta	GTEx
rs3917729	METTL18	cis	Artery Tibial	GTEx
rs3917729	METTL18	cis	Esophagus Muscularis	GTEx
rs3917729	C1orf156	cis	uninvolved skin	skin_eQTL
rs3917729	METTL18	cis	Nerve Tibial	GTEx
rs3917729	METTL18	cis	Muscle Skeletal	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169565400-169581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:169570400-169585400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:169574800-169583000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:169576600-169585200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:169578800-169584200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:169579400-169581400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:169579600-169582000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:169579800-169587600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:169580200-169584200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:169580600-169582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:169581000-169581400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:169581000-169583600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:169581000-169585400	Weak transcription	Placenta	Placenta

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