Variant report

Variant	rs59123040
Chromosome Location	chr1:174508250-174508251
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1016465	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16847226	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56684280	0.92[AFR][1000 genomes]
rs57654087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57775442	1.00[AMR][1000 genomes]
rs58501155	0.85[AFR][1000 genomes]
rs59297292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59588705	1.00[AMR][1000 genomes]
rs59692051	1.00[AFR][1000 genomes]
rs60510552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73026418	0.92[AFR][1000 genomes]
rs73026420	0.92[AFR][1000 genomes]
rs73026424	0.92[AFR][1000 genomes]
rs73026442	0.85[AFR][1000 genomes]
rs73038687	0.85[AFR][1000 genomes]
rs73040875	0.92[AFR][1000 genomes]
rs73040884	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040885	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040887	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1007667	chr1:174438778-174556953	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1009056	chr1:174457532-174549665	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv999295	chr1:174457532-174596961	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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
11	nsv548195	chr1:174469002-174519276	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv2757762	chr1:174469281-174569776	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv2758979	chr1:174469281-174569776	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174490200-174508400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:174499200-174514200	Weak transcription	Left Ventricle	heart
3	chr1:174504600-174514200	Weak transcription	Ovary	ovary
4	chr1:174506600-174515600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:174507200-174514200	Weak transcription	GM12878-XiMat	blood

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