Variant report

Variant	rs12085005
Chromosome Location	chr1:75539441-75539442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11162571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs1405308	1.00[CHB][hapmap]
rs1526512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs1526514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs17096406	1.00[CHB][hapmap]
rs17622126	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17622948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2462955	1.00[CHB][hapmap]
rs3925749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs57419583	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv508293	chr1:75491417-75541615	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75538800-75540200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:75538800-75540200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:75539000-75539600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:75539000-75540800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:75539200-75540200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:75539200-75541000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:75539200-75541400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:75539400-75539600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:75539400-75540600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:75539400-75541800	Enhancers	ES-UCSF4 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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