Variant report

Variant	rs2494191
Chromosome Location	chr1:210346053-210346054
allele	C/G
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:35)

rs_ID	r²[population]
rs11119425	0.88[AFR][1000 genomes]
rs11119427	0.87[AFR][1000 genomes]
rs11119428	0.82[AFR][1000 genomes]
rs11119429	0.89[AFR][1000 genomes]
rs12129172	0.87[AFR][1000 genomes]
rs12401646	0.86[AMR][1000 genomes]
rs12750599	0.86[AMR][1000 genomes]
rs1338286	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1413695	0.86[AFR][1000 genomes]
rs17318612	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs17318744	0.93[AMR][1000 genomes]
rs1933477	0.85[AFR][1000 genomes]
rs2451696	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2451697	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2484030	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2484031	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2484032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2484034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs2485883	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2485884	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2485885	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2485891	0.89[AFR][1000 genomes]
rs2485892	0.89[AFR][1000 genomes]
rs2485897	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2485898	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2485902	0.81[AMR][1000 genomes]
rs2494169	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2494170	0.97[ASN][1000 genomes]
rs34931444	0.82[ASN][1000 genomes]
rs35256257	0.86[AMR][1000 genomes]
rs4844954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56131913	0.81[AMR][1000 genomes]
rs61820397	0.86[AMR][1000 genomes]
rs61826848	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs7543650	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873144	chr1:210252522-210347417	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv873145	chr1:210302595-210347417	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv873146	chr1:210312760-210347417	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210339400-210361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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