Variant report

Variant	rs335537
Chromosome Location	chr1:214900932-214900933
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11120394	0.83[ASN][1000 genomes]
rs12057597	0.83[ASN][1000 genomes]
rs1597504	0.83[ASN][1000 genomes]
rs1597505	0.83[ASN][1000 genomes]
rs1779662	0.95[ASN][1000 genomes]
rs1779663	0.95[ASN][1000 genomes]
rs335529	0.95[ASN][1000 genomes]
rs335554	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs335557	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs335558	1.00[ASN][1000 genomes]
rs365681	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6682081	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214900400-214901000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:214900400-214901000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:214900400-214901000	Enhancers	HepG2	liver
4	chr1:214900400-214901200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:214900600-214901000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:214900600-214901000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:214900600-214901000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:214900600-214901200	Active TSS	A549	lung
9	chr1:214900800-214901000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:214900800-214901000	Enhancers	Placenta	Placenta
11	chr1:214900800-214901200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:214900800-214901200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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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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