Variant report

Variant	rs12187787
Chromosome Location	chr5:111704212-111704213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111698176..111701130-chr5:111702890..111704978,2	K562	blood:
2	chr5:111701962..111704282-chr5:111752364..111755005,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248350	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10037824	1.00[ASN][1000 genomes]
rs10065740	1.00[ASN][1000 genomes]
rs10068493	1.00[ASN][1000 genomes]
rs10463433	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs10477478	1.00[ASN][1000 genomes]
rs10478073	1.00[ASN][1000 genomes]
rs11241153	1.00[ASN][1000 genomes]
rs11241160	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186685	1.00[ASN][1000 genomes]
rs12187589	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187819	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187850	0.81[CEU][hapmap]
rs12188700	1.00[ASN][1000 genomes]
rs12189034	1.00[ASN][1000 genomes]
rs13153601	1.00[ASN][1000 genomes]
rs1318178	1.00[ASN][1000 genomes]
rs1427978	1.00[ASN][1000 genomes]
rs1554624	0.80[CEU][hapmap]
rs1560061	1.00[ASN][1000 genomes]
rs17134319	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs17134321	0.87[CEU][hapmap]
rs17134348	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs17271934	0.80[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17343994	1.00[ASN][1000 genomes]
rs17345175	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354763	1.00[ASN][1000 genomes]
rs17354833	1.00[ASN][1000 genomes]
rs1896620	1.00[ASN][1000 genomes]
rs1896621	1.00[ASN][1000 genomes]
rs2067096	1.00[ASN][1000 genomes]
rs2416277	1.00[ASN][1000 genomes]
rs386446	1.00[ASN][1000 genomes]
rs4292487	1.00[ASN][1000 genomes]
rs4602685	1.00[ASN][1000 genomes]
rs4958012	1.00[ASN][1000 genomes]
rs4958013	1.00[ASN][1000 genomes]
rs4958014	1.00[ASN][1000 genomes]
rs4958015	1.00[ASN][1000 genomes]
rs4958020	1.00[ASN][1000 genomes]
rs4958025	1.00[ASN][1000 genomes]
rs55639430	1.00[ASN][1000 genomes]
rs55650579	1.00[ASN][1000 genomes]
rs55712004	1.00[ASN][1000 genomes]
rs55796748	1.00[ASN][1000 genomes]
rs55814486	1.00[ASN][1000 genomes]
rs55829200	1.00[ASN][1000 genomes]
rs55845736	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913426	1.00[ASN][1000 genomes]
rs56108405	1.00[ASN][1000 genomes]
rs56288086	1.00[ASN][1000 genomes]
rs56293447	1.00[ASN][1000 genomes]
rs56307310	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57428532	1.00[ASN][1000 genomes]
rs59537089	1.00[ASN][1000 genomes]
rs60636568	1.00[ASN][1000 genomes]
rs61061658	1.00[ASN][1000 genomes]
rs62365251	1.00[ASN][1000 genomes]
rs62365255	1.00[ASN][1000 genomes]
rs62367266	1.00[ASN][1000 genomes]
rs6594577	1.00[ASN][1000 genomes]
rs6594588	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs66521031	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66537821	0.97[EUR][1000 genomes]
rs66550707	1.00[ASN][1000 genomes]
rs66814803	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66892745	1.00[ASN][1000 genomes]
rs67033649	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67586008	1.00[ASN][1000 genomes]
rs67631852	1.00[ASN][1000 genomes]
rs6876893	1.00[ASN][1000 genomes]
rs6878117	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs6878423	1.00[ASN][1000 genomes]
rs6884589	1.00[ASN][1000 genomes]
rs6893877	1.00[ASN][1000 genomes]
rs6894036	0.80[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781655	1.00[ASN][1000 genomes]
rs72781664	1.00[ASN][1000 genomes]
rs72781668	1.00[ASN][1000 genomes]
rs72781677	1.00[ASN][1000 genomes]
rs72781678	1.00[ASN][1000 genomes]
rs72783609	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72783628	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783634	1.00[ASN][1000 genomes]
rs7704087	1.00[ASN][1000 genomes]
rs7709484	1.00[ASN][1000 genomes]
rs7714258	0.87[CEU][hapmap]
rs7716394	0.86[CEU][hapmap]
rs7722291	1.00[ASN][1000 genomes]
rs821736	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs821738	0.86[CEU][hapmap]
rs821739	0.87[CEU][hapmap]
rs821749	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs890757	1.00[ASN][1000 genomes]
rs890758	1.00[ASN][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	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111685200-111707000	Weak transcription	Ovary	ovary
2	chr5:111685200-111709800	Weak transcription	Aorta	Aorta
3	chr5:111689600-111708800	Weak transcription	Esophagus	oesophagus
4	chr5:111701600-111712200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:111701800-111704600	Enhancers	Right Atrium	heart
6	chr5:111701800-111704800	Enhancers	Left Ventricle	heart
7	chr5:111702800-111707000	Weak transcription	Gastric	stomach
8	chr5:111703400-111706800	Weak transcription	K562	blood
9	chr5:111703400-111707000	Weak transcription	Pancreas	Pancrea
10	chr5:111703400-111708800	Weak transcription	Adipose Nuclei	Adipose
11	chr5:111703600-111704600	Weak transcription	Fetal Heart	heart
12	chr5:111703800-111705800	Enhancers	Right Ventricle	heart
13	chr5:111704000-111704400	Enhancers	Lung	lung

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