Variant report

Variant	rs34917335
Chromosome Location	chr5:42894102-42894103
allele	C/T
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	chr5:42894072-42894151	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr5:42894061-42894145	GM13976	blood:	n/a	n/a
3	RAD21	chr5:42894077-42894721	H1-hESC	embryonic stem cell:	n/a	chr5:42894417-42894436 chr5:42894419-42894431 chr5:42894420-42894433
4	CTCF	chr5:42894069-42894708	SK-N-SH	brain:	n/a	chr5:42894419-42894437 chr5:42894420-42894436

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42887211..42889280-chr5:42893252..42895006,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249092	TF binding region
ENSG00000250722	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10036147	0.91[ASN][1000 genomes]
rs10036468	0.91[ASN][1000 genomes]
rs10044301	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10053947	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10061198	0.91[ASN][1000 genomes]
rs10068961	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10072017	0.97[ASN][1000 genomes]
rs12655096	0.92[ASN][1000 genomes]
rs12658770	0.87[ASN][1000 genomes]
rs12659760	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13156119	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13354920	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs160330	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs188793	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902100	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2098715	0.95[ASN][1000 genomes]
rs2548362	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2548364	0.88[EUR][1000 genomes]
rs2548365	0.89[EUR][1000 genomes]
rs2548366	0.90[EUR][1000 genomes]
rs2603622	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2603624	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28415991	0.92[ASN][1000 genomes]
rs309932	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309934	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309935	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309942	0.87[EUR][1000 genomes]
rs315246	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs315253	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs315263	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34981544	0.91[ASN][1000 genomes]
rs371261	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs378235	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs378344	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs388214	0.94[ASN][1000 genomes]
rs420550	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs435312	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs446294	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4482913	0.91[ASN][1000 genomes]
rs4513706	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs453436	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6451649	0.91[ASN][1000 genomes]
rs6451650	0.91[ASN][1000 genomes]
rs6451651	0.91[ASN][1000 genomes]
rs6451652	0.91[ASN][1000 genomes]
rs6451653	0.89[ASN][1000 genomes]
rs6451654	0.89[ASN][1000 genomes]
rs6864892	0.98[ASN][1000 genomes]
rs6867854	0.89[ASN][1000 genomes]
rs6875237	0.91[ASN][1000 genomes]
rs6881608	0.91[ASN][1000 genomes]
rs6885355	0.91[ASN][1000 genomes]
rs6886626	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895458	0.91[ASN][1000 genomes]
rs6895751	0.91[ASN][1000 genomes]
rs71627562	0.97[ASN][1000 genomes]
rs71627563	0.97[ASN][1000 genomes]
rs7701142	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7721545	0.94[ASN][1000 genomes]
rs9885101	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[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	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
2	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
3	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
5	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers 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 miRNA target site	309 gene(s)	inside rSNPs	diseases
7	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
8	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
9	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42887600-42894400	Weak transcription	K562	blood
2	chr5:42889600-42894200	Weak transcription	Adipose Nuclei	Adipose

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