Variant report

Variant	rs2072809
Chromosome Location	chr22:32721624-32721625
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12166399	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs2281033	0.87[ASN][1000 genomes]
rs2413106	0.94[ASN][1000 genomes]
rs2413107	0.94[ASN][1000 genomes]
rs5749396	0.85[ASN][1000 genomes]
rs5749398	0.92[ASN][1000 genomes]
rs5753957	0.92[EUR][1000 genomes]
rs5753960	0.90[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs5753962	0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs5753964	0.91[ASN][1000 genomes]
rs5753974	0.94[ASN][1000 genomes]
rs5753976	0.94[ASN][1000 genomes]
rs5753979	0.87[ASN][1000 genomes]
rs5753982	0.88[ASN][1000 genomes]
rs5998405	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs5998406	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7285170	0.93[ASN][1000 genomes]
rs9606937	0.88[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2072809	NIPSNAP1	cis	cerebellum	SCAN
rs2072809	SLC5A4	cis	parietal	SCAN
rs2072809	C22orf28	cis	cerebellum	SCAN
rs2072809	MN1	cis	cerebellum	SCAN
rs2072809	DRG1	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32716600-32721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr22:32716600-32728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32718600-32721800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:32720600-32721800	Enhancers	Fetal Heart	heart
5	chr22:32720800-32722800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:32721000-32722000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:32721000-32722000	Enhancers	Right Ventricle	heart
8	chr22:32721200-32722000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr22:32721200-32722600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr22:32721400-32721800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr22:32721400-32722000	Enhancers	Brain Germinal Matrix	brain
12	chr22:32721400-32722000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr22:32721400-32722600	Weak transcription	Spleen	Spleen
14	chr22:32721600-32721800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr22:32721600-32721800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr22:32721600-32722000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr22:32721600-32722000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr22:32721600-32722800	Enhancers	ES-I3 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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