Variant report

Variant	rs72845011
Chromosome Location	chr6:27500822-27500823
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27495180..27505101-chr6:27505644..27514408,17	K562	blood:
2	chr6:27490784..27493132-chr6:27499536..27501600,2	K562	blood:
3	chr6:27498929..27501646-chr6:27502336..27504422,2	K562	blood:

Variant related genes	Relation type
ENSG00000218347	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10456051	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12189640	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12191649	0.84[AMR][1000 genomes]
rs12193557	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12194341	0.84[AMR][1000 genomes]
rs12194842	0.84[AMR][1000 genomes]
rs12195783	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12196452	0.84[AMR][1000 genomes]
rs12199685	0.84[AMR][1000 genomes]
rs12199806	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12202956	0.84[AMR][1000 genomes]
rs12204953	0.84[AMR][1000 genomes]
rs12205044	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12209174	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12209905	0.84[AMR][1000 genomes]
rs12211931	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12212348	0.84[AMR][1000 genomes]
rs12212389	0.84[AMR][1000 genomes]
rs12212632	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12213471	0.84[AMR][1000 genomes]
rs12213533	0.84[AMR][1000 genomes]
rs12215289	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12215353	0.84[AMR][1000 genomes]
rs12215386	0.84[AMR][1000 genomes]
rs12215878	0.84[AMR][1000 genomes]
rs12374607	0.84[AMR][1000 genomes]
rs12374649	0.84[AMR][1000 genomes]
rs56099947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57075114	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60888769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62617138	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71546544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72839471	0.84[AMR][1000 genomes]
rs72839474	0.84[AMR][1000 genomes]
rs72839479	0.84[AMR][1000 genomes]
rs72841397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72841398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72841399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72841400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72843151	0.84[AMR][1000 genomes]
rs72843177	0.84[AMR][1000 genomes]
rs72843191	0.84[AMR][1000 genomes]
rs72845006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845016	1.00[AFR][1000 genomes]
rs72845025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845032	1.00[AFR][1000 genomes]
rs72845033	0.86[EUR][1000 genomes]
rs72845042	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845050	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72845051	0.83[EUR][1000 genomes]
rs72845058	0.81[AMR][1000 genomes]
rs72845060	0.81[AMR][1000 genomes]
rs72845062	0.81[AMR][1000 genomes]
rs72845064	0.81[AMR][1000 genomes]
rs72845232	0.84[AMR][1000 genomes]
rs9368509	0.84[AMR][1000 genomes]
rs9393814	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv462665	chr6:27458013-27547792	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv601203	chr6:27458013-27547792	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883509	chr6:27492906-27586181	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27499600-27501400	Enhancers	HMEC	breast
2	chr6:27500000-27501200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:27500000-27501200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:27500000-27501200	Enhancers	NH-A	brain
5	chr6:27500000-27501400	Enhancers	HepG2	liver
6	chr6:27500400-27501000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:27500400-27501200	Enhancers	A549	lung
8	chr6:27500600-27501200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:27500600-27501200	Enhancers	NHEK	skin
10	chr6:27500600-27501800	Enhancers	K562	blood
11	chr6:27500800-27501200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:27500800-27506200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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