Variant report

Variant	rs534569
Chromosome Location	chr1:57590328-57590329
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11206964	1.00[CHB][hapmap]
rs12060287	1.00[CHB][hapmap]
rs12133813	1.00[CHB][hapmap]
rs1394396	1.00[CHB][hapmap]
rs149766	1.00[CHB][hapmap]
rs197612	1.00[CHB][hapmap]
rs490793	0.81[EUR][1000 genomes]
rs535415	0.86[CEU][hapmap]
rs554795	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57551400-57622000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57577200-57595600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:57583600-57593000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:57585000-57592400	Weak transcription	Fetal Heart	heart
5	chr1:57588200-57596800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:57589200-57591000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:57589400-57608600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:57589600-57590600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:57589600-57591000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:57589600-57592600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:57589800-57590800	Enhancers	NHDF-Ad	bronchial
12	chr1:57589800-57591000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:57589800-57592600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:57589800-57592800	Enhancers	NHEK	skin
15	chr1:57590000-57590600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:57590000-57590600	Enhancers	HMEC	breast
17	chr1:57590000-57590600	Enhancers	NH-A	brain
18	chr1:57590000-57591200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:57590200-57590600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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