Variant report

Variant	rs17780682
Chromosome Location	chr14:67324226-67324227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10483790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483792	1.00[ASN][1000 genomes]
rs17103796	1.00[ASN][1000 genomes]
rs17103807	1.00[ASN][1000 genomes]
rs17103814	1.00[ASN][1000 genomes]
rs17103853	1.00[ASN][1000 genomes]
rs17103856	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17103859	1.00[ASN][1000 genomes]
rs17103876	1.00[ASN][1000 genomes]
rs17103879	1.00[ASN][1000 genomes]
rs17103896	1.00[ASN][1000 genomes]
rs17103910	1.00[ASN][1000 genomes]
rs17103924	1.00[ASN][1000 genomes]
rs17182817	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17182886	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17183371	1.00[AFR][1000 genomes]
rs17183406	1.00[AFR][1000 genomes]
rs17780490	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17780526	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17780694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955611	1.00[ASN][1000 genomes]
rs3752992	1.00[ASN][1000 genomes]
rs3784076	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41285470	1.00[AFR][1000 genomes]
rs55980059	1.00[ASN][1000 genomes]
rs56007522	1.00[ASN][1000 genomes]
rs56034749	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56078060	1.00[ASN][1000 genomes]
rs56289007	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56292859	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715303	1.00[ASN][1000 genomes]
rs72715304	1.00[ASN][1000 genomes]
rs72715306	1.00[ASN][1000 genomes]
rs72715307	1.00[ASN][1000 genomes]
rs72715308	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715310	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715313	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715314	1.00[ASN][1000 genomes]
rs72715322	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715323	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715327	1.00[ASN][1000 genomes]
rs72715329	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715331	1.00[ASN][1000 genomes]
rs72715332	1.00[ASN][1000 genomes]
rs72715334	1.00[ASN][1000 genomes]
rs72715335	1.00[ASN][1000 genomes]
rs72715336	1.00[ASN][1000 genomes]
rs72715338	1.00[ASN][1000 genomes]
rs72715339	1.00[ASN][1000 genomes]
rs72715340	1.00[ASN][1000 genomes]
rs72715342	1.00[ASN][1000 genomes]
rs72715343	1.00[ASN][1000 genomes]
rs72715344	1.00[ASN][1000 genomes]
rs72715346	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715347	1.00[ASN][1000 genomes]
rs72715348	1.00[ASN][1000 genomes]
rs72715349	1.00[ASN][1000 genomes]
rs72715351	1.00[ASN][1000 genomes]
rs72715353	1.00[ASN][1000 genomes]
rs72715354	1.00[ASN][1000 genomes]
rs72715355	1.00[ASN][1000 genomes]
rs72726457	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726458	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726459	1.00[ASN][1000 genomes]
rs72726462	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726479	1.00[ASN][1000 genomes]
rs72726480	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726482	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726487	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726490	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726491	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726494	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726496	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726500	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728611	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728617	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728626	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728632	1.00[AFR][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[AMR][1000 genomes];0.95[EUR][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[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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[AMR][1000 genomes];0.92[EUR][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[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728682	1.00[ASN][1000 genomes]
rs72728688	1.00[ASN][1000 genomes]
rs72728689	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728699	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728702	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730407	1.00[ASN][1000 genomes]
rs72730410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730411	1.00[ASN][1000 genomes]
rs72730413	1.00[ASN][1000 genomes]
rs72730416	1.00[ASN][1000 genomes]
rs72730418	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730423	1.00[ASN][1000 genomes]
rs72730425	1.00[ASN][1000 genomes]
rs72730426	1.00[ASN][1000 genomes]
rs72730427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730429	1.00[ASN][1000 genomes]
rs72730432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72730433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730435	1.00[ASN][1000 genomes]
rs72730436	1.00[ASN][1000 genomes]
rs72730437	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730439	1.00[ASN][1000 genomes]
rs72730440	1.00[ASN][1000 genomes]
rs72730441	1.00[ASN][1000 genomes]
rs72730442	1.00[ASN][1000 genomes]
rs72730443	1.00[ASN][1000 genomes]
rs72730444	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730445	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730447	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730449	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730450	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730453	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730454	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730456	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730457	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
4	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
5	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
6	esv1841470	chr14:67140676-67335425	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
7	nsv902035	chr14:67140676-67336479	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv915868	chr14:67146757-67351687	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv902042	chr14:67213769-67351019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv902044	chr14:67217091-67364763	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv534305	chr14:67217462-67351687	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv902045	chr14:67219817-67336479	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv902046	chr14:67219817-67364763	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv902050	chr14:67228671-67324226	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1838724	chr14:67232573-67527235	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv902053	chr14:67233737-67324226	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv902054	chr14:67253035-67364763	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv564957	chr14:67318878-67356061	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67310200-67326600	Weak transcription	Left Ventricle	heart
2	chr14:67320400-67325800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:67321600-67326000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:67323600-67325800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:67323600-67325800	Weak transcription	NHEK	skin
6	chr14:67323600-67326000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:67323600-67327400	Weak transcription	Psoas Muscle	Psoas
8	chr14:67324000-67341400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:67324200-67325400	Weak transcription	Fetal Stomach	stomach

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