Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12405609	1.00[CHB][hapmap]
rs12406184	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12407883	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12564961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17114840	1.00[JPT][hapmap]
rs17114978	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17115023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17115030	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17419873	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17420013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17420216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17453874	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35522019	0.82[ASN][1000 genomes]
rs55706301	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs564691	0.83[CHD][hapmap]
rs61765294	0.82[ASN][1000 genomes]
rs61765295	0.82[ASN][1000 genomes]
rs61765319	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61765320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6697173	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs728719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57551400-57622000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57576200-57584800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:57577200-57595600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:57578200-57589600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:57579400-57586400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:57580400-57589200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:57583600-57584400	Weak transcription	Fetal Heart	heart
8	chr1:57583600-57593000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:57583800-57584200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:57583800-57584600	Enhancers	NHEK	skin

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