Variant report

Variant	rs490419
Chromosome Location	chr1:57682835-57682836
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs155286	0.92[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs197597	0.82[CEU][hapmap]
rs197603	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs197604	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs197605	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs197607	0.81[CEU][hapmap]
rs264036	0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs2764660	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs561248	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs619732	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs653386	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57675600-57692600	Weak transcription	Fetal Intestine Large	intestine
2	chr1:57676000-57689800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57678600-57684600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57679200-57695000	Weak transcription	Fetal Brain Female	brain
5	chr1:57680800-57684000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:57680800-57684800	Enhancers	Fetal Heart	heart
7	chr1:57681800-57684200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:57681800-57684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:57681800-57690000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:57682000-57683000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:57682000-57687800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:57682000-57690600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:57682200-57683400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:57682200-57690200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:57682600-57686000	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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