Variant report

Variant	rs975227
Chromosome Location	chr11:18886618-18886619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10833006	0.97[ASN][1000 genomes]
rs10833007	0.97[ASN][1000 genomes]
rs11024834	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024835	0.93[ASN][1000 genomes]
rs1384640	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384641	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384642	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384648	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1813080	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1973238	0.83[EUR][1000 genomes]
rs2200174	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2403353	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4237737	0.94[ASN][1000 genomes]
rs4325289	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756973	0.93[ASN][1000 genomes]
rs7111492	0.96[ASN][1000 genomes]
rs7117857	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2758257	chr11:18818729-19082068	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759806	chr11:18818729-19082068	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428250	chr11:18818729-19082068	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv430322	chr11:18880428-18957197	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv832080	chr11:18882048-18975514	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18881800-18899800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18886400-18887200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr11:18886400-18888600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:18886600-18887000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:18886600-18887200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:18886600-18887200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:18886600-18888600	Enhancers	iPS-15b 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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