Variant report

Variant	rs611875
Chromosome Location	chr1:194043395-194043396
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:7)

rs_ID	r²[population]
rs1442423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1442424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1992475	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635780	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs658005	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs684854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7540373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv872835	chr1:194014041-194051568	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1001872	chr1:194030479-194288016	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv872836	chr1:194032486-194130204	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194039400-194045200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:194042400-194044000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:194042800-194045800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:194043000-194043400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:194043000-194043800	Enhancers	Fetal Heart	heart

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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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