Variant report

Variant	rs72728665
Chromosome Location	chr14:67273906-67273907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67273370..67275073-chr14:67291638..67294473,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10483790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103796	1.00[ASN][1000 genomes]
rs17103807	1.00[ASN][1000 genomes]
rs17103814	1.00[ASN][1000 genomes]
rs17182773	1.00[AFR][1000 genomes];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]
rs17780682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17780694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955611	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]
rs72726406	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726407	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726416	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726418	1.00[ASN][1000 genomes]
rs72726419	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726424	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726426	1.00[ASN][1000 genomes]
rs72726429	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726430	1.00[ASN][1000 genomes]
rs72726432	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726433	1.00[ASN][1000 genomes]
rs72726434	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726438	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726440	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726444	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72726447	1.00[AFR][1000 genomes];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];1.00[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];1.00[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];0.97[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];1.00[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];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728699	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728702	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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];0.92[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];0.92[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];0.92[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];0.92[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];0.92[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];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730445	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730447	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730449	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730450	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730453	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730454	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730456	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730457	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv902038	chr14:67146763-67298170	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	nsv902047	chr14:67227911-67291154	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv902048	chr14:67227911-67308900	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv902049	chr14:67228671-67274610	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	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
19	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
20	nsv902051	chr14:67233737-67274610	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv902052	chr14:67233737-67291154	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	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
23	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
24	nsv902055	chr14:67261821-67291154	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv902056	chr14:67261821-67308900	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67255600-67280000	Weak transcription	Gastric	stomach
2	chr14:67257600-67282000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:67261000-67280000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:67267200-67280000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:67267400-67280000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:67268600-67280000	Weak transcription	Aorta	Aorta
7	chr14:67268600-67280000	Weak transcription	Right Ventricle	heart
8	chr14:67268800-67280000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:67268800-67280000	Weak transcription	Pancreas	Pancrea
10	chr14:67269400-67280000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:67270000-67274800	Weak transcription	HepG2	liver
12	chr14:67270000-67280000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:67271800-67280200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:67272800-67280200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:67273000-67280000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:67273000-67280000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:67273000-67280000	Weak transcription	Liver	Liver
18	chr14:67273000-67280000	Weak transcription	Fetal Stomach	stomach
19	chr14:67273000-67280000	Weak transcription	Ovary	ovary
20	chr14:67273000-67280600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:67273200-67282600	Weak transcription	Fetal Brain Male	brain
22	chr14:67273400-67280000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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