Variant report

Variant	rs2176119
Chromosome Location	chr8:52865436-52865437
allele	A/G
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:19)

rs_ID	r²[population]
rs10087958	1.00[ASN][1000 genomes]
rs10453128	0.82[ASN][1000 genomes]
rs11551686	0.90[AFR][1000 genomes]
rs1589079	0.93[ASN][1000 genomes]
rs16916966	0.89[ASN][1000 genomes]
rs16916968	0.90[ASN][1000 genomes]
rs2138297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473666	0.93[ASN][1000 genomes]
rs73583663	0.88[AFR][1000 genomes]
rs7813414	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7816834	0.81[ASN][1000 genomes]
rs7817558	0.82[ASN][1000 genomes]
rs7817892	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7819892	0.90[ASN][1000 genomes]
rs7820177	0.93[ASN][1000 genomes]
rs7833668	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7834181	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7838307	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs877248	0.90[ASN][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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52850200-52868000	Weak transcription	Primary B cells from cord blood	blood
2	chr8:52852000-52870000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr8:52852200-52866000	Weak transcription	Left Ventricle	heart
4	chr8:52852600-52867600	Weak transcription	Fetal Kidney	kidney
5	chr8:52852800-52867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:52859800-52866600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:52861200-52866600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:52861200-52870000	Weak transcription	Fetal Muscle Leg	muscle

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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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