Variant report

Variant	rs72991977
Chromosome Location	chr2:145433168-145433169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56744646	1.00[AMR][1000 genomes]
rs56780231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58504774	1.00[AMR][1000 genomes]
rs72993904	1.00[AMR][1000 genomes]
rs72999719	1.00[AMR][1000 genomes]
rs72999720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999753	1.00[AMR][1000 genomes]
rs73001749	1.00[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	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr2:145423000-145440600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:145431400-145435400	Weak transcription	Fetal Kidney	kidney
3	chr2:145432800-145434000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:145432800-145434200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:145432800-145435400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:145433000-145434000	Enhancers	HMEC	breast
7	chr2:145433000-145434400	Enhancers	NHEK	skin
8	chr2:145433000-145435400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:145433000-145438800	Weak transcription	Primary monocytes fromperipheralblood	blood

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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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