Variant report

Variant	rs17163138
Chromosome Location	chr1:222626980-222626981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11485175	0.81[ASN][1000 genomes]
rs17163094	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17163107	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17163124	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17163130	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1906272	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28637266	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34513293	0.87[ASN][1000 genomes]
rs4846366	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4846368	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4846749	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73119096	0.84[AMR][1000 genomes];0.81[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	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222614800-222628000	Weak transcription	Fetal Heart	heart
2	chr1:222615000-222628000	Weak transcription	Pancreas	Pancrea
3	chr1:222623600-222628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:222624600-222627600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:222624800-222627200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:222625200-222628000	Weak transcription	Aorta	Aorta
7	chr1:222626400-222628000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:222626600-222628200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:222626800-222627600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:222626800-222628000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:222626800-222628400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:222626800-222629000	Enhancers	Primary T helper cells fromperipheralblood	blood

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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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