Variant report

Variant	rs9613417
Chromosome Location	chr22:27696999-27697000
allele	A/C
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:13)

rs_ID	r²[population]
rs12158540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12159314	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16984270	1.00[ASN][1000 genomes]
rs16984280	1.00[ASN][1000 genomes]
rs16984284	1.00[ASN][1000 genomes]
rs17374919	1.00[YRI][hapmap]
rs28546189	1.00[ASN][1000 genomes]
rs480029	1.00[ASN][1000 genomes]
rs566827	1.00[ASN][1000 genomes]
rs577795	1.00[ASN][1000 genomes]
rs6005368	0.94[EUR][1000 genomes]
rs73153970	1.00[ASN][1000 genomes]
rs742054	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27687400-27698000	Enhancers	Fetal Brain Male	brain
2	chr22:27693800-27697000	Flanking Active TSS	Fetal Brain Female	brain
3	chr22:27695600-27697000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr22:27695800-27697000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:27695800-27697000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:27696400-27697800	Enhancers	Brain Germinal Matrix	brain
7	chr22:27696800-27697000	Enhancers	Brain Anterior Caudate	brain
8	chr22:27696800-27697000	Enhancers	Pancreas	Pancrea
9	chr22:27696800-27698200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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