Variant report

Variant	rs72990286
Chromosome Location	chr1:113813833-113813834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11102587	1.00[EUR][1000 genomes]
rs12061638	1.00[EUR][1000 genomes]
rs12061679	1.00[EUR][1000 genomes]
rs12063125	1.00[EUR][1000 genomes]
rs12063286	1.00[EUR][1000 genomes]
rs12063903	1.00[EUR][1000 genomes]
rs12066276	1.00[EUR][1000 genomes]
rs12068534	1.00[EUR][1000 genomes]
rs12068820	1.00[EUR][1000 genomes]
rs12069411	1.00[EUR][1000 genomes]
rs12075714	1.00[EUR][1000 genomes]
rs12078513	1.00[EUR][1000 genomes]
rs12090558	1.00[EUR][1000 genomes]
rs1216787	1.00[EUR][1000 genomes]
rs72990262	1.00[EUR][1000 genomes]
rs72990279	1.00[EUR][1000 genomes]
rs72990283	1.00[EUR][1000 genomes]
rs72990285	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7511828	1.00[EUR][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	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113798800-113817800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:113799400-113824200	Weak transcription	Fetal Kidney	kidney
3	chr1:113813000-113814800	Enhancers	Fetal Intestine Large	intestine
4	chr1:113813400-113814600	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:113813400-113814600	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr1:113813400-113814800	Enhancers	Fetal Intestine Small	intestine
7	chr1:113813600-113814000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:113813800-113814000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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