Variant report

Variant	rs197598
Chromosome Location	chr1:57682758-57682759
allele	C/T
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]
rs1053	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs155284	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs155285	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs197101	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs197103	0.93[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs197105	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs197600	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs197601	0.85[AMR][1000 genomes]
rs197602	0.93[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs197610	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs264037	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs264038	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs502350	0.82[CEU][hapmap]

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

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

what's new

Quick links