Variant report

Variant	rs17792748
Chromosome Location	chr14:22022117-22022118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10134397	0.92[ASN][1000 genomes]
rs11157043	0.82[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11846361	0.99[ASN][1000 genomes]
rs4405469	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4540977	0.85[ASN][1000 genomes]
rs4981373	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8015663	0.94[ASN][1000 genomes]

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	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1049871	chr14:21992049-22053477	Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17792748	NEDD8	cis	cerebellum	SCAN
rs17792748	SNORD8	cis	cerebellum	SCAN
rs17792748	ZNF219	cis	parietal	SCAN
rs17792748	PARP2	cis	parietal	SCAN
rs17792748	OR11G2	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22018800-22035200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22020600-22022200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:22021000-22025400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:22021200-22022200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr14:22021200-22022200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:22021200-22022200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr14:22021200-22022200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:22021200-22022200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:22021200-22022400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:22021200-22022400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:22021200-22022400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:22021800-22022200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:22021800-22024600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:22022000-22023600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:22022000-22024400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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

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