Variant report

Variant	rs12191373
Chromosome Location	chr6:27484330-27484331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10456051	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10456355	0.81[AMR][1000 genomes]
rs12189640	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12191649	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12192560	0.93[AMR][1000 genomes]
rs12193557	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12194341	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12194842	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12195783	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12196452	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12196970	0.86[AMR][1000 genomes]
rs12199685	1.00[AMR][1000 genomes]
rs12199806	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12202956	1.00[AMR][1000 genomes]
rs12204953	1.00[AMR][1000 genomes]
rs12205044	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12209174	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12209905	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12211931	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12212348	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12212389	1.00[AMR][1000 genomes]
rs12212632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12213471	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12213533	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12215289	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12215353	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12215386	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12215878	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12374607	1.00[AMR][1000 genomes]
rs12374649	1.00[AMR][1000 genomes]
rs56099947	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57075114	0.88[EUR][1000 genomes]
rs60888769	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62617138	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71546544	0.84[AMR][1000 genomes]
rs72839468	0.86[AMR][1000 genomes]
rs72839469	0.86[AMR][1000 genomes]
rs72839470	0.86[AMR][1000 genomes]
rs72839471	1.00[AMR][1000 genomes]
rs72839474	1.00[AMR][1000 genomes]
rs72839479	1.00[AMR][1000 genomes]
rs72841397	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72841398	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72841399	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72841400	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72843151	1.00[AMR][1000 genomes]
rs72843177	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72843191	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72845006	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845008	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845011	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845012	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845025	0.84[AMR][1000 genomes]
rs72845027	0.84[AMR][1000 genomes]
rs72845028	0.84[AMR][1000 genomes]
rs72845030	0.84[AMR][1000 genomes]
rs72845031	0.84[AMR][1000 genomes]
rs72845042	0.84[AMR][1000 genomes]
rs72845044	0.84[AMR][1000 genomes]
rs72845050	0.84[AMR][1000 genomes]
rs72845208	0.93[AMR][1000 genomes]
rs72845232	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9348759	0.80[CEU][hapmap]
rs9348763	0.86[AMR][1000 genomes]
rs9368500	0.80[CEU][hapmap]
rs9368509	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9379975	0.80[CEU][hapmap];0.86[AMR][1000 genomes]
rs9393814	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27482800-27485600	Weak transcription	K562	blood
2	chr6:27483000-27485800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:27483000-27486000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:27483200-27485800	Weak transcription	Right Atrium	heart
5	chr6:27483200-27485800	Weak transcription	HMEC	breast
6	chr6:27483200-27486000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:27483200-27486200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:27483200-27486200	Weak transcription	Ovary	ovary
9	chr6:27483600-27486400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:27484000-27484400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:27484200-27484800	Bivalent Enhancer	HepG2	liver

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