Variant report

Variant	rs17163502
Chromosome Location	chr1:222967688-222967689
allele	A/C
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:18)

rs_ID	r²[population]
rs17011702	1.00[AMR][1000 genomes]
rs17163347	1.00[AMR][1000 genomes]
rs17163458	1.00[AMR][1000 genomes]
rs17163479	1.00[AMR][1000 genomes]
rs4846778	0.83[AFR][1000 genomes]
rs61743732	1.00[AMR][1000 genomes]
rs74145517	1.00[AMR][1000 genomes]
rs74145518	1.00[AMR][1000 genomes]
rs74145541	1.00[AMR][1000 genomes]
rs74145543	1.00[AMR][1000 genomes]
rs74145544	1.00[AMR][1000 genomes]
rs74145547	1.00[AMR][1000 genomes]
rs74145550	1.00[AMR][1000 genomes]
rs74145551	1.00[AMR][1000 genomes]
rs74145552	1.00[AMR][1000 genomes]
rs74145553	1.00[AMR][1000 genomes]
rs74145556	1.00[AMR][1000 genomes]
rs74145562	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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr1:222953400-222968000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:222960000-222967800	Weak transcription	Stomach Mucosa	stomach
4	chr1:222965000-222971000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:222965800-222968800	Enhancers	Colon Smooth Muscle	Colon
6	chr1:222966200-222971200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:222966400-222968200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr1:222966800-222968200	Weak transcription	Liver	Liver
9	chr1:222967400-222971200	Weak transcription	Fetal Lung	lung
10	chr1:222967600-222967800	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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