Variant report

Variant	rs205988
Chromosome Location	chr6:164445232-164445233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs189976	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs205986	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs205989	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs205991	0.95[EUR][1000 genomes]
rs34113046	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs412729	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4709808	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4709809	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4709812	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4709813	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4709814	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs85750	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs85751	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355452	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830858	chr6:164296054-164455743	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1019703	chr6:164424683-164488780	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1796945	chr6:164430826-164448156	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164442200-164446400	Enhancers	Fetal Muscle Leg	muscle
2	chr6:164443000-164446000	Weak transcription	Right Atrium	heart
3	chr6:164443200-164459000	Weak transcription	Spleen	Spleen
4	chr6:164443400-164447000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:164443400-164447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:164444000-164447400	Weak transcription	Fetal Brain Male	brain
7	chr6:164444400-164448400	Weak transcription	Brain Germinal Matrix	brain
8	chr6:164444600-164446200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:164445000-164446200	Enhancers	Psoas Muscle	Psoas
10	chr6:164445000-164446600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr6:164445000-164457400	Weak transcription	Fetal Heart	heart
12	chr6:164445200-164445400	Enhancers	Skeletal Muscle Female	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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