Variant report

Variant	rs4918971
Chromosome Location	chr10:97569998-97569999
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10736092	0.84[ASN][1000 genomes]
rs10736093	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10736094	0.82[ASN][1000 genomes]
rs10748645	0.80[ASN][1000 genomes]
rs10748647	0.84[ASN][1000 genomes]
rs10748648	0.84[ASN][1000 genomes]
rs10786234	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10786236	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10882657	0.84[AMR][1000 genomes]
rs10882663	0.80[ASN][1000 genomes]
rs10882666	0.80[ASN][1000 genomes]
rs10882673	0.84[ASN][1000 genomes]
rs10882674	0.84[ASN][1000 genomes]
rs10882675	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10882676	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11188446	0.83[AMR][1000 genomes]
rs11188465	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11188486	0.80[ASN][1000 genomes]
rs11188497	0.84[ASN][1000 genomes]
rs11188513	0.82[ASN][1000 genomes]
rs11517041	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1342790	0.84[ASN][1000 genomes]
rs1418709	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1573112	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1891534	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1933165	0.84[AMR][1000 genomes]
rs1933172	0.84[AMR][1000 genomes]
rs2051052	0.81[ASN][1000 genomes]
rs2095713	0.83[AMR][1000 genomes]
rs2153914	0.82[ASN][1000 genomes]
rs2226163	0.82[ASN][1000 genomes]
rs2275759	0.82[ASN][1000 genomes]
rs2861147	0.84[AMR][1000 genomes]
rs2861148	0.84[AMR][1000 genomes]
rs2861152	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2901872	0.80[ASN][1000 genomes]
rs3176881	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3176890	0.84[ASN][1000 genomes]
rs3176891	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3181124	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3181131	0.84[ASN][1000 genomes]
rs3181132	0.84[ASN][1000 genomes]
rs3814159	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3892344	0.84[ASN][1000 genomes]
rs3929900	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3934409	0.84[AMR][1000 genomes]
rs4074424	0.84[ASN][1000 genomes]
rs4075310	0.84[ASN][1000 genomes]
rs4396219	0.80[ASN][1000 genomes]
rs4412693	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4539246	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4582902	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4917705	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4917707	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4917714	0.84[ASN][1000 genomes]
rs4917715	0.84[ASN][1000 genomes]
rs4918962	0.84[AMR][1000 genomes]
rs4918969	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6584017	0.83[AMR][1000 genomes]
rs6584018	0.84[AMR][1000 genomes]
rs6584027	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6584030	0.80[ASN][1000 genomes]
rs7074403	0.82[ASN][1000 genomes]
rs7083960	0.84[ASN][1000 genomes]
rs7088584	0.82[ASN][1000 genomes]
rs7088961	0.82[ASN][1000 genomes]
rs7097489	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7099844	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7478595	0.84[AMR][1000 genomes]
rs7913082	0.80[ASN][1000 genomes]
rs7914286	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7921242	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	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 target site	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4918971	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL
rs4918971	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97553000-97576200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:97558800-97570600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr10:97567200-97573200	Weak transcription	Spleen	Spleen
4	chr10:97567200-97573800	Weak transcription	Primary B cells from cord blood	blood
5	chr10:97567400-97573600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:97567800-97570000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr10:97569200-97570000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr10:97569200-97570000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:97569200-97570200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
10	chr10:97569200-97572000	Weak transcription	HepG2	liver
11	chr10:97569600-97570400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:97569800-97570200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
13	chr10:97569800-97570400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:97569800-97571200	ZNF genes & repeats	GM12878-XiMat	blood
15	chr10:97569800-97572000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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