Variant report

Variant	rs72714468
Chromosome Location	chr14:65978214-65978215
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10144979	0.96[ASN][1000 genomes]
rs10150412	0.89[ASN][1000 genomes]
rs10483776	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1113962	0.93[ASN][1000 genomes]
rs11844682	0.89[ASN][1000 genomes]
rs12433597	0.87[ASN][1000 genomes]
rs17753508	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1889731	0.89[ASN][1000 genomes]
rs1953415	0.91[ASN][1000 genomes]
rs1953418	0.89[ASN][1000 genomes]
rs1959144	0.89[ASN][1000 genomes]
rs2183277	0.87[ASN][1000 genomes]
rs2184601	0.89[ASN][1000 genomes]
rs2210805	0.89[ASN][1000 genomes]
rs2268959	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2411820	0.89[ASN][1000 genomes]
rs2898814	0.87[ASN][1000 genomes]
rs2898820	0.86[ASN][1000 genomes]
rs34640387	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34772005	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35949016	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3759680	0.85[ASN][1000 genomes]
rs3825639	0.87[ASN][1000 genomes]
rs4902399	0.94[ASN][1000 genomes]
rs60708728	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6573612	0.89[ASN][1000 genomes]
rs6573614	0.94[ASN][1000 genomes]
rs7145759	0.86[ASN][1000 genomes]
rs7147002	0.87[ASN][1000 genomes]
rs7150094	0.89[ASN][1000 genomes]
rs7150648	0.89[ASN][1000 genomes]
rs7157109	0.89[ASN][1000 genomes]
rs7158153	0.87[ASN][1000 genomes]
rs72714423	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72714428	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714433	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714436	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714439	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714440	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714442	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714447	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714461	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714478	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714482	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72714483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72714484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72714499	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72716407	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72716408	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72716418	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72716420	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72716421	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72716430	0.81[EUR][1000 genomes]
rs8003464	0.89[ASN][1000 genomes]
rs8017880	0.89[ASN][1000 genomes]
rs9323460	0.89[ASN][1000 genomes]
rs9323461	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65945200-65980000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:65963600-65994400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:65969800-65978800	Weak transcription	Ovary	ovary
4	chr14:65969800-65980800	Weak transcription	Pancreas	Pancrea
5	chr14:65969800-65994600	Weak transcription	Left Ventricle	heart
6	chr14:65970200-65985400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:65970200-65985400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:65970400-65981600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:65971400-65984200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:65973800-65980800	Weak transcription	Gastric	stomach
11	chr14:65974400-65980400	Weak transcription	Small Intestine	intestine
12	chr14:65975200-65979800	Weak transcription	Stomach Mucosa	stomach
13	chr14:65976200-65978800	Weak transcription	Primary T cells from cord blood	blood
14	chr14:65976400-65979800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:65976400-65988200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:65977600-65978600	Weak transcription	Primary B cells from cord blood	blood
17	chr14:65977600-65983600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:65977600-65983600	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:65977800-65983600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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