Variant report

Variant	rs72957643
Chromosome Location	chr2:99520312-99520313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs56923186	1.00[AMR][1000 genomes]
rs58738020	1.00[AMR][1000 genomes]
rs58821307	1.00[AMR][1000 genomes]
rs59365702	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60523550	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60725966	1.00[AMR][1000 genomes]
rs60745907	1.00[AMR][1000 genomes]
rs61503115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72956638	1.00[AMR][1000 genomes]
rs72956659	1.00[AMR][1000 genomes]
rs72956663	1.00[AMR][1000 genomes]
rs72957625	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957633	1.00[AMR][1000 genomes]
rs72957654	1.00[AMR][1000 genomes]
rs72957656	1.00[AMR][1000 genomes]
rs72957660	1.00[AMR][1000 genomes]
rs72957672	1.00[AMR][1000 genomes]
rs72958630	1.00[AMR][1000 genomes]
rs72958634	1.00[AMR][1000 genomes]
rs72958636	1.00[AMR][1000 genomes]
rs72958646	1.00[AMR][1000 genomes]
rs72958649	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958653	1.00[AMR][1000 genomes]
rs72958659	1.00[AMR][1000 genomes]
rs72958661	1.00[AMR][1000 genomes]
rs72958666	1.00[AMR][1000 genomes]
rs72960709	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73965241	1.00[AMR][1000 genomes]
rs73965242	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582518	chr2:99498774-99546355	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99511200-99520400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:99512000-99526000	Weak transcription	Right Atrium	heart
3	chr2:99513200-99525000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:99513400-99520600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:99515200-99524600	Weak transcription	Pancreas	Pancrea
6	chr2:99515800-99520600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:99517600-99526000	Weak transcription	Gastric	stomach
8	chr2:99518800-99525000	Weak transcription	Spleen	Spleen
9	chr2:99519600-99524800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:99520200-99520400	Enhancers	Fetal Brain Male	brain

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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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