Variant report

Variant	rs12878144
Chromosome Location	chr14:79515441-79515442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10132970	0.82[JPT][hapmap]
rs10134650	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10138639	0.82[JPT][hapmap]
rs10139370	0.82[JPT][hapmap]
rs10139445	0.82[JPT][hapmap]
rs10148992	0.82[JPT][hapmap]
rs11622043	0.82[JPT][hapmap]
rs12432509	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12896260	0.82[JPT][hapmap]
rs1532727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs168903	0.82[JPT][hapmap]
rs17108489	0.82[JPT][hapmap]
rs1875597	0.82[JPT][hapmap]
rs2062742	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2062743	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2062745	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2088965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2102170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2202169	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2202170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2202174	0.82[JPT][hapmap]
rs2202176	0.82[JPT][hapmap]
rs2202177	0.82[JPT][hapmap]
rs2202178	0.82[JPT][hapmap]
rs2202186	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2221299	0.82[JPT][hapmap]
rs2221300	0.82[JPT][hapmap]
rs2251903	0.82[JPT][hapmap]
rs2370896	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2620390	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2653539	0.82[JPT][hapmap]
rs4141948	0.82[JPT][hapmap]
rs4243661	0.82[JPT][hapmap]
rs4243662	0.82[JPT][hapmap]
rs4542593	0.82[JPT][hapmap]
rs4635270	0.82[JPT][hapmap]
rs4903814	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4903815	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4903822	0.82[JPT][hapmap]
rs4903831	0.82[JPT][hapmap]
rs5023075	0.82[JPT][hapmap]
rs6574479	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6574484	0.82[JPT][hapmap]
rs6574489	0.82[JPT][hapmap]
rs7143117	0.82[JPT][hapmap]
rs7145587	0.82[JPT][hapmap]
rs7156110	0.82[JPT][hapmap]
rs8005119	0.82[JPT][hapmap]
rs8021865	0.82[JPT][hapmap]
rs937649	0.82[JPT][hapmap]
rs937650	0.82[JPT][hapmap]
rs9652298	0.81[CHB][hapmap];0.82[JPT][hapmap]

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	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1036542	chr14:79478352-79518230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv565247	chr14:79508316-79555651	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79512200-79515800	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:79512400-79516800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:79512800-79517000	Weak transcription	HSMM	muscle
4	chr14:79513000-79517000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:79513000-79517200	Weak transcription	NHEK	skin
6	chr14:79513400-79517000	Weak transcription	HMEC	breast

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