Variant report

Variant	rs72715363
Chromosome Location	chr14:67561343-67561344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:172)

rs_ID	r²[population]
rs10483792	1.00[ASN][1000 genomes]
rs10483794	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483795	0.84[AMR][1000 genomes];0.95[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]
rs17103853	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103856	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][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	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103910	1.00[ASN][1000 genomes]
rs17103924	1.00[ASN][1000 genomes]
rs17103973	1.00[ASN][1000 genomes]
rs17103977	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103990	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103998	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104000	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104010	1.00[ASN][1000 genomes]
rs17104020	1.00[ASN][1000 genomes]
rs17104024	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104041	1.00[ASN][1000 genomes]
rs17104064	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104067	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104095	1.00[ASN][1000 genomes]
rs17104096	1.00[ASN][1000 genomes]
rs17780694	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17781220	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955611	1.00[ASN][1000 genomes]
rs2026653	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236334	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273835	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273836	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752992	1.00[ASN][1000 genomes]
rs3784076	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784077	1.00[ASN][1000 genomes]
rs3784080	1.00[ASN][1000 genomes]
rs41285536	1.00[ASN][1000 genomes]
rs41299201	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41301469	1.00[ASN][1000 genomes]
rs41477648	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41525547	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56264248	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	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715310	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715313	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715314	1.00[ASN][1000 genomes]
rs72715322	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715323	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715327	1.00[ASN][1000 genomes]
rs72715329	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][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	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715339	1.00[ASN][1000 genomes]
rs72715340	1.00[ASN][1000 genomes]
rs72715342	1.00[ASN][1000 genomes]
rs72715343	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715344	1.00[ASN][1000 genomes]
rs72715346	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][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]
rs72715356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715359	1.00[ASN][1000 genomes]
rs72715361	1.00[ASN][1000 genomes]
rs72715365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715367	1.00[ASN][1000 genomes]
rs72715369	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715370	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715371	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715373	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715374	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715376	1.00[ASN][1000 genomes]
rs72715378	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715381	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715383	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715385	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715386	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715387	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715388	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715389	1.00[ASN][1000 genomes]
rs72715390	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715391	1.00[ASN][1000 genomes]
rs72715393	1.00[ASN][1000 genomes]
rs72715395	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715396	1.00[ASN][1000 genomes]
rs72715398	1.00[ASN][1000 genomes]
rs72715399	1.00[ASN][1000 genomes]
rs72715400	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715401	1.00[ASN][1000 genomes]
rs72715402	1.00[ASN][1000 genomes]
rs72717303	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717304	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717305	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717306	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717308	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717309	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717310	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717311	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717313	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717315	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717316	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717317	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717319	1.00[ASN][1000 genomes]
rs72717320	1.00[ASN][1000 genomes]
rs72717321	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717322	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717323	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717324	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717325	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717326	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717327	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717328	1.00[ASN][1000 genomes]
rs72717330	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717332	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717333	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717335	1.00[ASN][1000 genomes]
rs72717336	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717338	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717340	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728693	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72728696	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72728699	1.00[ASN][1000 genomes]
rs72728702	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730403	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730404	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730406	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730407	1.00[ASN][1000 genomes]
rs72730410	0.83[AMR][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	0.83[AMR][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	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730429	1.00[ASN][1000 genomes]
rs72730432	0.83[AMR][1000 genomes]
rs72730433	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730435	1.00[ASN][1000 genomes]
rs72730436	1.00[ASN][1000 genomes]
rs72730437	0.94[AMR][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	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730445	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730447	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730449	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730450	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730453	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730454	1.00[ASN][1000 genomes]
rs72730456	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730457	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1841498	chr14:67434470-67634318	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67534800-67576400	Weak transcription	Pancreas	Pancrea
2	chr14:67545200-67569600	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:67545200-67569800	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:67545200-67570400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:67545400-67572000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
7	chr14:67548800-67567400	Weak transcription	Left Ventricle	heart
8	chr14:67549200-67562000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:67549200-67570800	Weak transcription	Psoas Muscle	Psoas
10	chr14:67549400-67561600	Weak transcription	Adipose Nuclei	Adipose
11	chr14:67549400-67569600	Weak transcription	Brain Anterior Caudate	brain
12	chr14:67549600-67568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:67549600-67569600	Weak transcription	Aorta	Aorta
14	chr14:67550200-67571200	Weak transcription	Dnd41	blood
15	chr14:67551000-67589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:67551200-67568800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:67553600-67569400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:67553800-67569400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:67554400-67569400	Weak transcription	Fetal Brain Female	brain
20	chr14:67554600-67604200	Weak transcription	HMEC	breast
21	chr14:67554800-67567400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:67555000-67571000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:67555400-67561800	Strong transcription	Liver	Liver
24	chr14:67555400-67589600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:67555400-67589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:67557600-67568800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:67558600-67589600	Weak transcription	Right Ventricle	heart
28	chr14:67559000-67570800	Weak transcription	Brain Angular Gyrus	brain
29	chr14:67559200-67567200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:67559800-67567200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:67560000-67562200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:67560400-67561600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:67560600-67567200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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