Variant report

Variant	rs7256597
Chromosome Location	chr19:42206950-42206951
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42199364..42201968-chr19:42204770..42207753,2	K562	blood:
2	chr19:42206272..42207887-chr19:42208137..42210800,2	K562	blood:
3	chr19:42204838..42207532-chr19:42209650..42212423,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000007306	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10415940	0.84[EUR][1000 genomes]
rs12459934	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs12460733	0.82[EUR][1000 genomes]
rs12460742	0.83[EUR][1000 genomes]
rs12461373	0.92[EUR][1000 genomes]
rs12971352	0.81[AMR][1000 genomes]
rs12979109	0.92[EUR][1000 genomes]
rs28683503	0.81[AMR][1000 genomes]
rs3928915	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3928918	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs3928919	0.97[EUR][1000 genomes]
rs55973747	0.81[EUR][1000 genomes]
rs7250222	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs7256221	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7257798	0.85[MEX][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7257962	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258524	0.89[EUR][1000 genomes]
rs7259215	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73045046	0.83[EUR][1000 genomes]
rs889365	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv1061309	chr19:42187716-42228445	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7256597	IL4I1	cis	parietal	SCAN
rs7256597	PPM1N	cis	parietal	SCAN
rs7256597	MARK4	cis	parietal	SCAN
rs7256597	NUCB1	cis	cerebellum	SCAN
rs7256597	CCDC114	cis	cerebellum	SCAN
rs7256597	CPT1C	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42203800-42210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:42204800-42210800	Weak transcription	Esophagus	oesophagus
3	chr19:42205200-42210600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr19:42205800-42207200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:42206000-42210800	Weak transcription	Pancreas	Pancrea
6	chr19:42206600-42207400	Enhancers	Hela-S3	cervix
7	chr19:42206600-42210800	Weak transcription	Placenta	Placenta
8	chr19:42206800-42207400	Enhancers	A549	lung

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