Variant report

Variant	rs990252
Chromosome Location	chr11:108494714-108494715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1017845	1.00[EUR][1000 genomes]
rs10400217	1.00[EUR][1000 genomes]
rs10400318	1.00[EUR][1000 genomes]
rs11212779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17108271	1.00[EUR][1000 genomes]
rs2640772	1.00[EUR][1000 genomes]
rs2852204	1.00[EUR][1000 genomes]
rs35520914	1.00[AMR][1000 genomes]
rs58222580	1.00[EUR][1000 genomes]
rs6589026	1.00[EUR][1000 genomes]
rs6589027	1.00[EUR][1000 genomes]
rs73554932	1.00[EUR][1000 genomes]
rs7948491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948697	1.00[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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108474400-108494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:108480800-108495000	Weak transcription	K562	blood
3	chr11:108488000-108494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:108488400-108499000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:108492000-108495000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:108492800-108494800	Weak transcription	Hela-S3	cervix
7	chr11:108492800-108495000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:108492800-108495000	Weak transcription	NHEK	skin
9	chr11:108493000-108498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:108493400-108494800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:108493400-108498000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:108494200-108494800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr11:108494400-108500600	Enhancers	Placenta	Placenta

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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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