Variant report

Variant	rs57768681
Chromosome Location	chr1:213100037-213100038
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213098539..213100855-chr1:213119235..213121922,2	K562	blood:
2	chr1:212963009..212966838-chr1:213099480..213103616,4	K562	blood:

Variant related genes	Relation type
ENSG00000117697	Chromatin interaction
ENSG00000203705	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11804466	1.00[ASN][1000 genomes]
rs11807270	1.00[ASN][1000 genomes]
rs11808834	1.00[ASN][1000 genomes]
rs11810592	1.00[ASN][1000 genomes]
rs55675185	1.00[ASN][1000 genomes]
rs56004152	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58153233	1.00[ASN][1000 genomes]
rs58318035	1.00[ASN][1000 genomes]
rs59454401	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59560971	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59694884	1.00[ASN][1000 genomes]
rs60610968	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6684088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6699046	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140524	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7518378	1.00[ASN][1000 genomes]
rs7533253	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213090600-213101800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:213090800-213101200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:213090800-213101200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:213090800-213101200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:213091800-213100400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:213092200-213101400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:213092800-213101200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:213094800-213101400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:213095000-213101400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:213097800-213101200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:213098800-213100200	Enhancers	NHDF-Ad	bronchial
12	chr1:213098800-213101200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:213098800-213101200	Weak transcription	Fetal Lung	lung
14	chr1:213098800-213101400	Weak transcription	HepG2	liver
15	chr1:213098800-213101600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:213099000-213101400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:213099400-213101800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:213099600-213101800	Weak transcription	HSMMtube	muscle
19	chr1:213099800-213100600	Enhancers	K562	blood
20	chr1:213100000-213101200	Weak transcription	Fetal Stomach	stomach
21	chr1:213100000-213101800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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