Variant report

Variant	rs12699350
Chromosome Location	chr7:12309918-12309919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12304154..12306342-chr7:12308310..12310160,2	K562	blood:
2	chr7:12249722..12251364-chr7:12307905..12310601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106460	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10231277	0.86[ASN][1000 genomes]
rs10231484	0.86[ASN][1000 genomes]
rs10231577	0.85[ASN][1000 genomes]
rs10233442	0.81[ASN][1000 genomes]
rs10236246	0.86[ASN][1000 genomes]
rs10237559	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10239248	0.84[ASN][1000 genomes]
rs10247702	0.82[ASN][1000 genomes]
rs10248101	0.82[ASN][1000 genomes]
rs10253377	0.98[ASN][1000 genomes]
rs10258758	0.82[ASN][1000 genomes]
rs10258988	0.82[ASN][1000 genomes]
rs10259332	0.84[ASN][1000 genomes]
rs10260491	0.86[ASN][1000 genomes]
rs10262994	0.82[ASN][1000 genomes]
rs10263810	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10273672	0.84[ASN][1000 genomes]
rs10273729	0.84[ASN][1000 genomes]
rs10274502	0.81[ASN][1000 genomes]
rs10275284	0.82[ASN][1000 genomes]
rs10275416	0.82[ASN][1000 genomes]
rs10277566	0.81[ASN][1000 genomes]
rs11973540	0.84[ASN][1000 genomes]
rs11977828	0.94[ASN][1000 genomes]
rs12699342	0.93[ASN][1000 genomes]
rs2192840	0.84[ASN][1000 genomes]
rs2216048	0.83[ASN][1000 genomes]
rs28451976	0.84[ASN][1000 genomes]
rs28572024	0.86[ASN][1000 genomes]
rs28608715	0.84[ASN][1000 genomes]
rs28657943	0.86[ASN][1000 genomes]
rs2883841	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2883877	0.82[ASN][1000 genomes]
rs3919542	0.83[ASN][1000 genomes]
rs3919543	0.83[ASN][1000 genomes]
rs4141568	0.84[ASN][1000 genomes]
rs4141569	0.84[ASN][1000 genomes]
rs4446631	0.85[ASN][1000 genomes]
rs4446632	0.85[ASN][1000 genomes]
rs4496864	0.85[ASN][1000 genomes]
rs4574747	0.85[ASN][1000 genomes]
rs57694022	0.86[ASN][1000 genomes]
rs61054154	0.86[ASN][1000 genomes]
rs66601708	0.86[ASN][1000 genomes]
rs67593601	0.86[ASN][1000 genomes]
rs6945245	0.81[ASN][1000 genomes]
rs6945381	0.99[ASN][1000 genomes]
rs6948515	0.99[ASN][1000 genomes]
rs6949562	0.98[ASN][1000 genomes]
rs6952078	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6959666	0.81[ASN][1000 genomes]
rs6969447	0.99[ASN][1000 genomes]
rs6972805	0.84[ASN][1000 genomes]
rs6976341	0.98[ASN][1000 genomes]
rs6977521	0.82[ASN][1000 genomes]
rs6977815	0.82[ASN][1000 genomes]
rs6977943	0.82[ASN][1000 genomes]
rs72584561	0.86[ASN][1000 genomes]
rs72584562	0.86[ASN][1000 genomes]
rs72584563	0.85[ASN][1000 genomes]
rs72584564	0.86[ASN][1000 genomes]
rs72584567	0.86[ASN][1000 genomes]
rs72584570	0.86[ASN][1000 genomes]
rs72584572	0.86[ASN][1000 genomes]
rs72584573	0.86[ASN][1000 genomes]
rs72584574	0.80[ASN][1000 genomes]
rs72584575	0.86[ASN][1000 genomes]
rs72584577	0.86[ASN][1000 genomes]
rs7776877	0.98[ASN][1000 genomes]
rs7780582	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7788409	0.91[ASN][1000 genomes]
rs7795892	0.98[ASN][1000 genomes]
rs7808979	0.98[ASN][1000 genomes]
rs9768750	0.84[ASN][1000 genomes]
rs9768757	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv1033704	chr7:12286225-12355773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv887629	chr7:12304555-12400837	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12308400-12310600	Enhancers	Fetal Intestine Large	intestine
2	chr7:12308600-12310000	Enhancers	Fetal Intestine Small	intestine
3	chr7:12308800-12310000	Enhancers	HepG2	liver
4	chr7:12309400-12310000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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