Variant report

Variant	rs72726458
Chromosome Location	chr14:67119598-67119599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10483790	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17182539	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17182546	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17182703	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17182773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17182817	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17182886	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17780202	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17780490	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17780526	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17780682	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55661543	1.00[ASN][1000 genomes]
rs55760399	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55979515	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55980059	1.00[ASN][1000 genomes]
rs56007522	1.00[ASN][1000 genomes]
rs56034749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56041119	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56078060	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173717	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184700	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56289007	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56292859	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321745	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56398638	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724530	1.00[ASN][1000 genomes]
rs72724532	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724545	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724548	1.00[ASN][1000 genomes]
rs72724549	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724551	1.00[ASN][1000 genomes]
rs72724552	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724558	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724563	1.00[ASN][1000 genomes]
rs72724564	1.00[ASN][1000 genomes]
rs72724569	1.00[ASN][1000 genomes]
rs72724570	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724583	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724584	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724597	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724599	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72726403	0.85[AMR][1000 genomes]
rs72726406	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726407	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726416	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726418	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72726419	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726424	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726426	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72726429	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726430	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72726432	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726433	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72726434	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726440	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726444	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726447	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726459	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72726462	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726479	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72726480	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726482	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726487	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726490	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726500	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728611	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728617	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728626	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728632	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728643	1.00[ASN][1000 genomes]
rs72728644	1.00[ASN][1000 genomes]
rs72728646	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728648	1.00[AFR][1000 genomes]
rs72728650	1.00[ASN][1000 genomes]
rs72728652	1.00[ASN][1000 genomes]
rs72728660	1.00[ASN][1000 genomes]
rs72728662	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728665	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728670	1.00[ASN][1000 genomes]
rs72728673	1.00[ASN][1000 genomes]
rs72728675	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728678	1.00[ASN][1000 genomes]
rs72728679	1.00[ASN][1000 genomes]
rs72728680	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728682	1.00[ASN][1000 genomes]
rs72728688	1.00[ASN][1000 genomes]
rs72728689	1.00[ASN][1000 genomes]
rs72728690	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728692	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2755473	chr14:66962747-67177647	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1052677	chr14:67007414-67123639	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv564954	chr14:67044103-67124785	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1048504	chr14:67053046-67120741	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1046763	chr14:67053046-67123639	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1040770	chr14:67053046-67135147	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv2761841	chr14:67053058-67123651	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1046627	chr14:67059270-67120741	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1049050	chr14:67059270-67123639	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1051980	chr14:67076006-67140282	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv431014	chr14:67077150-67120432	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv916205	chr14:67078849-67351687	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1834170	chr14:67103140-67527235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv1840424	chr14:67103579-67186037	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv564955	chr14:67103579-67234710	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67101400-67119600	Weak transcription	Aorta	Aorta
2	chr14:67116200-67120000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:67116200-67120400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:67116600-67120000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:67117000-67120000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:67117000-67121200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:67118000-67120000	Enhancers	Brain Hippocampus Middle	brain
8	chr14:67118400-67119600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:67118400-67119600	Weak transcription	GM12878-XiMat	blood
10	chr14:67118600-67123000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:67119200-67119800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:67119200-67119800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:67119200-67119800	Enhancers	Right Atrium	heart
14	chr14:67119200-67120000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:67119200-67120000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr14:67119200-67120400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:67119400-67119600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:67119400-67119600	Enhancers	Brain Germinal Matrix	brain
19	chr14:67119400-67119800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:67119400-67119800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:67119400-67119800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:67119400-67119800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:67119400-67119800	Enhancers	Brain Anterior Caudate	brain
24	chr14:67119400-67119800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:67119400-67119800	Enhancers	Brain Substantia Nigra	brain
26	chr14:67119400-67119800	Enhancers	Fetal Muscle Leg	muscle
27	chr14:67119400-67119800	Enhancers	Left Ventricle	heart
28	chr14:67119400-67119800	Enhancers	Ovary	ovary
29	chr14:67119400-67119800	Enhancers	Pancreas	Pancrea
30	chr14:67119400-67119800	Enhancers	Right Ventricle	heart
31	chr14:67119400-67119800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr14:67119400-67119800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:67119400-67120000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:67119400-67120000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:67119400-67120000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr14:67119400-67120000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr14:67119400-67120000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr14:67119400-67120000	Enhancers	Adipose Nuclei	Adipose
39	chr14:67119400-67120000	Enhancers	Brain Angular Gyrus	brain
40	chr14:67119400-67120200	Enhancers	Psoas Muscle	Psoas

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