Variant report

Variant	rs12083355
Chromosome Location	chr1:174397853-174397854
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10489257	1.00[EUR][1000 genomes]
rs10912742	1.00[EUR][1000 genomes]
rs10912743	1.00[EUR][1000 genomes]
rs10912744	1.00[EUR][1000 genomes]
rs10912748	1.00[EUR][1000 genomes]
rs10912760	1.00[EUR][1000 genomes]
rs10912767	1.00[EUR][1000 genomes]
rs10912768	1.00[EUR][1000 genomes]
rs10912783	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912784	1.00[EUR][1000 genomes]
rs10912785	1.00[EUR][1000 genomes]
rs10912788	1.00[EUR][1000 genomes]
rs10912790	1.00[EUR][1000 genomes]
rs12057220	1.00[EUR][1000 genomes]
rs12058498	1.00[EUR][1000 genomes]
rs12059051	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059636	1.00[EUR][1000 genomes]
rs12059902	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066028	1.00[EUR][1000 genomes]
rs12067445	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12069450	1.00[EUR][1000 genomes]
rs12070328	1.00[EUR][1000 genomes]
rs12071243	1.00[EUR][1000 genomes]
rs12073453	1.00[EUR][1000 genomes]
rs12075085	1.00[EUR][1000 genomes]
rs12075263	1.00[EUR][1000 genomes]
rs12075962	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076425	1.00[EUR][1000 genomes]
rs12078222	1.00[EUR][1000 genomes]
rs12081444	1.00[EUR][1000 genomes]
rs12082017	1.00[EUR][1000 genomes]
rs12090908	1.00[EUR][1000 genomes]
rs12092291	1.00[EUR][1000 genomes]
rs12094140	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094364	1.00[EUR][1000 genomes]
rs12096718	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12354281	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1467397	1.00[EUR][1000 genomes]
rs16846878	1.00[EUR][1000 genomes]
rs6682041	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv872555	chr1:174343705-174565720	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1003113	chr1:174367687-174499155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv535209	chr1:174367687-174499155	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174381200-174438800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174383200-174399000	Weak transcription	Left Ventricle	heart
3	chr1:174383200-174399400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:174383200-174405200	Weak transcription	GM12878-XiMat	blood
5	chr1:174383600-174402400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:174389400-174415000	Weak transcription	Aorta	Aorta
7	chr1:174397200-174398200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:174397600-174404200	Weak transcription	Right Atrium	heart
9	chr1:174397800-174402400	Weak transcription	Muscle Satellite Cultured Cells	--

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