Variant report

Variant	rs556131
Chromosome Location	chr1:57678787-57678788
allele	A/C
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:13)

rs_ID	r²[population]
rs155286	0.92[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs197597	0.84[CEU][hapmap]
rs197603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197604	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs197605	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs197607	0.83[CEU][hapmap]
rs264036	0.82[CHB][hapmap];0.88[ASN][1000 genomes]
rs2764660	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs490419	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]
rs502350	0.80[CEU][hapmap]
rs561248	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs619732	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs653386	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57672400-57680600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:57672400-57680800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:57672600-57680800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:57675600-57692600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:57675800-57680800	Weak transcription	Fetal Heart	heart
6	chr1:57676000-57689800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:57678400-57678800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:57678600-57678800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:57678600-57679200	Enhancers	Fetal Brain Male	brain
10	chr1:57678600-57679200	Enhancers	Fetal Brain Female	brain
11	chr1:57678600-57684600	Weak transcription	hESC Derived CD184+ Endoderm 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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