Variant report

Variant	rs685287
Chromosome Location	chr1:194038580-194038581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10921491	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12124021	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1372643	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2584257	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2895663	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs509469	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs511374	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs534209	0.80[EUR][1000 genomes]
rs624023	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs627525	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs634899	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs637225	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs651794	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs665903	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72745140	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7417488	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9783003	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9943193	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9943194	0.81[AMR][1000 genomes];0.86[EUR][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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194032200-194043000	Weak transcription	Right Atrium	heart
2	chr1:194033800-194040400	Weak transcription	HUVEC	blood vessel
3	chr1:194037000-194038800	Enhancers	Ovary	ovary
4	chr1:194037200-194039600	Enhancers	Fetal Heart	heart
5	chr1:194037400-194038600	Weak transcription	Left Ventricle	heart
6	chr1:194037600-194038600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:194037600-194038600	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:194037600-194038800	Enhancers	Adipose Nuclei	Adipose
9	chr1:194037800-194042400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:194038000-194040800	Enhancers	Fetal Brain Male	brain
11	chr1:194038400-194039400	Enhancers	Rectal Smooth Muscle	rectum

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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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