Variant report

Variant	rs12431671
Chromosome Location	chr14:79558059-79558060
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	chr14:79557622..79558152-chr15:97180235..97181024,2	MCF-7	breast:

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10133874	0.81[CEU][hapmap]
rs10135754	0.82[CEU][hapmap]
rs10135769	0.82[CEU][hapmap]
rs10139452	0.83[EUR][1000 genomes]
rs10139460	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs10141828	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs10141996	0.87[EUR][1000 genomes]
rs10142256	0.86[EUR][1000 genomes]
rs10143998	0.96[EUR][1000 genomes]
rs10146180	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10146542	0.82[CEU][hapmap]
rs10147558	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs10147940	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs10148388	0.91[EUR][1000 genomes]
rs10150011	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs10151590	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs11159391	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11159392	0.82[AMR][1000 genomes]
rs11159395	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11625343	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs11627661	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs11627905	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs12147468	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12147740	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12323794	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs12432817	0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12434809	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs12435865	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12586394	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs12879491	0.81[JPT][hapmap]
rs12880107	0.86[JPT][hapmap]
rs12880289	0.83[JPT][hapmap]
rs12881434	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12882464	0.80[EUR][1000 genomes]
rs12887850	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12890392	0.81[JPT][hapmap];0.86[YRI][hapmap]
rs12894123	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12895916	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12897265	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1532728	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes]
rs154325	0.93[JPT][hapmap]
rs1547533	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1547535	0.87[EUR][1000 genomes]
rs1566675	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17108575	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1875595	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1995411	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs2035284	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2062740	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs2062741	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs2062744	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs2062746	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2088966	0.92[CEU][hapmap]
rs2088967	0.93[CEU][hapmap]
rs2134366	0.81[JPT][hapmap]
rs2202167	0.81[CEU][hapmap]
rs2202168	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2202171	0.93[CEU][hapmap]
rs2202172	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2202179	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2202180	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2202183	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2202184	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2221297	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2221298	0.81[CEU][hapmap]
rs2370895	0.89[CEU][hapmap]
rs2370900	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370901	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2370902	0.91[EUR][1000 genomes]
rs2620398	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28706257	0.90[EUR][1000 genomes]
rs28831381	0.87[EUR][1000 genomes]
rs2887887	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34121288	0.90[EUR][1000 genomes]
rs35916059	0.81[EUR][1000 genomes]
rs4899732	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs4903813	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4903816	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs4903819	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4903820	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4903823	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap]
rs4903825	0.92[EUR][1000 genomes]
rs4903830	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4903833	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs61639937	0.83[EUR][1000 genomes]
rs61992500	0.83[EUR][1000 genomes]
rs6574478	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs6574480	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6574492	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574493	0.93[CEU][hapmap]
rs7142308	0.84[JPT][hapmap]
rs7149325	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7151651	0.92[YRI][hapmap]
rs7154545	0.81[JPT][hapmap];0.85[YRI][hapmap]
rs7155818	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7157779	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs7161610	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72687406	0.83[EUR][1000 genomes]
rs8004582	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8005334	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs8006615	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8006983	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8007813	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8008393	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8009383	0.96[CEU][hapmap]
rs8009417	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes]
rs8010365	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs8010673	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs8011832	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs8012099	0.86[EUR][1000 genomes]
rs8013072	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8014314	0.88[EUR][1000 genomes]
rs8016232	0.81[CEU][hapmap]
rs8016756	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs8017018	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs8018180	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019071	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8020811	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872483	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9323670	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs9323671	0.93[CEU][hapmap]
rs937648	0.93[CEU][hapmap]
rs997842	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];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	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	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
4	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
5	esv2761846	chr14:79522198-79629157	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr14:79556400-79558200	Enhancers	Brain Hippocampus Middle	brain
2	chr14:79556600-79558200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:79556800-79558200	Enhancers	Brain Angular Gyrus	brain
4	chr14:79556800-79558200	Enhancers	Stomach Smooth Muscle	stomach
5	chr14:79556800-79558800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr14:79556800-79559000	Enhancers	Brain Substantia Nigra	brain
7	chr14:79557000-79558200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr14:79557400-79558600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:79557600-79558200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr14:79557600-79558400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:79557600-79559200	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:79557800-79558200	Enhancers	HUES6 Cell Line	embryonic stem cell

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