Variant report

Variant	rs17183429
Chromosome Location	chr4:92037951-92037952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:92037840-92037990	RPTEC	kidney:	n/a	n/a
2	CTCF	chr4:92037880-92038030	HCM	heart:	n/a	n/a
3	RAD21	chr4:92037919-92038404	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
ENSG00000248984	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10023583	0.90[ASN][1000 genomes]
rs10029387	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs11936423	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11936946	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.93[ASN][1000 genomes]
rs11938021	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1544385	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17182898	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17243008	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs2189186	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs2214384	0.93[ASN][1000 genomes]
rs2214385	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs2214387	0.85[ASN][1000 genomes]
rs35223253	0.81[ASN][1000 genomes]
rs3944131	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4302434	0.94[ASN][1000 genomes]
rs4635787	0.93[ASN][1000 genomes]
rs4693258	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4693262	0.85[CHB][hapmap]
rs55871997	0.94[ASN][1000 genomes]
rs56091462	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59017289	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61117447	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62312188	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62312189	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62312245	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6532280	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs67816799	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6842062	0.94[ASN][1000 genomes]
rs714186	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs7655384	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs7677433	0.86[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.81[TSI][hapmap]
rs7688333	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs7697891	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491945	chr4:91753638-92240582	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv879559	chr4:91918870-92152678	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv869023	chr4:91940838-92935383	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2757943	chr4:91946664-92146114	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2759267	chr4:91946664-92146114	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1831682	chr4:91979094-92114281	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv879561	chr4:92005403-92061748	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3448147	chr4:92011533-92275731	Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv879562	chr4:92023320-92114281	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv879563	chr4:92028168-92114281	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv879564	chr4:92033255-92184080	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17183429	ATOH1	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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