Variant report

Variant	rs72905258
Chromosome Location	chr1:57549373-57549374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11802124	1.00[AMR][1000 genomes]
rs155290	1.00[AMR][1000 genomes]
rs155292	1.00[AMR][1000 genomes]
rs17114921	0.85[AFR][1000 genomes]
rs17115034	1.00[AMR][1000 genomes]
rs1760208	1.00[AMR][1000 genomes]
rs3850545	1.00[AMR][1000 genomes]
rs498065	1.00[AMR][1000 genomes]
rs55750012	1.00[AMR][1000 genomes]
rs55891661	1.00[AMR][1000 genomes]
rs60411523	1.00[AMR][1000 genomes]
rs61163916	1.00[AMR][1000 genomes]
rs72907176	1.00[AMR][1000 genomes]
rs72907186	1.00[AMR][1000 genomes]
rs72917110	1.00[AMR][1000 genomes]
rs72919284	1.00[AMR][1000 genomes]
rs72919287	1.00[AMR][1000 genomes]
rs74074396	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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv10195	chr1:57547001-57550700	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57534000-57551000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57534000-57552600	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57538600-57550400	Weak transcription	Fetal Brain Male	brain
4	chr1:57541800-57552200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:57544000-57555000	Weak transcription	Left Ventricle	heart
6	chr1:57545000-57549400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:57546800-57549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:57547600-57549800	Enhancers	Fetal Heart	heart
9	chr1:57548000-57553000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:57548000-57553400	Enhancers	Ovary	ovary
11	chr1:57548200-57550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:57548600-57549600	Enhancers	Right Ventricle	heart
13	chr1:57548800-57549600	Enhancers	Fetal Brain Female	brain
14	chr1:57548800-57553000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:57548800-57566600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:57549000-57555200	Weak transcription	Right Atrium	heart
17	chr1:57549200-57554600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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