Variant report

Variant	rs5998411
Chromosome Location	chr22:32716278-32716279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11703126	1.00[ASN][1000 genomes]
rs11703659	1.00[CHB][hapmap]
rs11704384	1.00[ASN][1000 genomes]
rs11705507	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12158562	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12160128	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16990113	1.00[AMR][1000 genomes]
rs16990201	1.00[ASN][1000 genomes]
rs17687156	1.00[CHB][hapmap]
rs5994522	1.00[CHB][hapmap]
rs5994528	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994535	1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs5998387	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998399	0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998409	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62239272	1.00[ASN][1000 genomes]
rs73398852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv2753006	chr22:32592120-32719481	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32715600-32717000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:32715600-32717000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:32715600-32717000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:32715800-32716400	Enhancers	Fetal Brain Female	brain
5	chr22:32715800-32716800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:32716000-32716400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:32716000-32716600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:32716000-32716600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr22:32716000-32716800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr22:32716000-32716800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr22:32716200-32716600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr22:32716200-32716600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr22:32716200-32716600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:32716200-32716800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr22:32716200-32716800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr22:32716200-32716800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr22:32716200-32717000	Enhancers	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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