Variant report

Variant	rs454643
Chromosome Location	chr1:174612230-174612231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10912815	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912816	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912818	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912819	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057359	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12066268	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12069689	0.94[AMR][1000 genomes]
rs12072909	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1329280	0.84[AMR][1000 genomes]
rs1612104	0.89[AMR][1000 genomes]
rs1653637	0.89[AMR][1000 genomes]
rs173000	0.94[AMR][1000 genomes]
rs189141	0.94[AMR][1000 genomes]
rs2760059	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2987871	0.89[AMR][1000 genomes]
rs3018408	0.84[AMR][1000 genomes]
rs3123641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs332766	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs332780	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs332785	0.94[AMR][1000 genomes]
rs332792	0.94[AMR][1000 genomes]
rs333419	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs392368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4290116	0.94[AMR][1000 genomes]
rs4309037	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs56106555	0.94[AMR][1000 genomes]
rs56357087	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs58238388	0.89[AMR][1000 genomes]
rs59073370	0.84[AMR][1000 genomes]
rs60283543	0.84[AMR][1000 genomes]
rs6696432	0.84[AMR][1000 genomes]
rs6701696	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs74126851	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs74126855	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv534381	chr1:174468168-174656796	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1803591	chr1:174594575-174642336	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174603200-174616000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:174604600-174613800	Weak transcription	Ovary	ovary
3	chr1:174605400-174612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:174606200-174621600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:174607000-174618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:174607400-174613200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:174607400-174613400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:174607600-174613000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:174607600-174613200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:174607600-174628600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:174607600-174637000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:174607600-174677800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:174612000-174612400	ZNF genes & repeats	Aorta	Aorta
14	chr1:174612000-174615400	Weak transcription	Primary T cells fromperipheralblood	blood

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