Variant report

Variant	rs2200971
Chromosome Location	chr1:210183884-210183885
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489345	1.00[AMR][1000 genomes]
rs10494926	1.00[AMR][1000 genomes]
rs1334570	1.00[AMR][1000 genomes]
rs1413696	1.00[AMR][1000 genomes]
rs1413697	1.00[AMR][1000 genomes]
rs17015459	1.00[AMR][1000 genomes]
rs17015463	1.00[AMR][1000 genomes]
rs17015515	1.00[AMR][1000 genomes]
rs17015549	1.00[AMR][1000 genomes]
rs17015578	1.00[AMR][1000 genomes]
rs17015600	1.00[AMR][1000 genomes]
rs17015659	1.00[AMR][1000 genomes]
rs17015695	1.00[AMR][1000 genomes]
rs17015699	1.00[AMR][1000 genomes]
rs2171989	1.00[AMR][1000 genomes]
rs3860298	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4551595	1.00[AMR][1000 genomes]
rs4844502	0.82[AFR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	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
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210162800-210189200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210181000-210184600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:210183600-210198000	Weak transcription	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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