Variant report

Variant	rs72715348
Chromosome Location	chr14:67551107-67551108
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 221 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:212)

rs_ID	r²[population]
rs10483792	1.00[ASN][1000 genomes]
rs10483794	1.00[ASN][1000 genomes]
rs10483795	1.00[ASN][1000 genomes]
rs1405856	1.00[AFR][1000 genomes]
rs1405857	1.00[AFR][1000 genomes]
rs17103786	1.00[AFR][1000 genomes]
rs17103794	1.00[AFR][1000 genomes]
rs17103796	1.00[ASN][1000 genomes]
rs17103807	1.00[ASN][1000 genomes]
rs17103813	1.00[AFR][1000 genomes]
rs17103814	1.00[ASN][1000 genomes]
rs17103815	1.00[AFR][1000 genomes]
rs17103816	1.00[AFR][1000 genomes]
rs17103822	1.00[AFR][1000 genomes]
rs17103826	1.00[AFR][1000 genomes]
rs17103833	1.00[AFR][1000 genomes]
rs17103847	1.00[AFR][1000 genomes]
rs17103853	1.00[ASN][1000 genomes]
rs17103856	1.00[ASN][1000 genomes]
rs17103859	1.00[ASN][1000 genomes]
rs17103876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103879	1.00[ASN][1000 genomes]
rs17103891	1.00[AFR][1000 genomes]
rs17103896	1.00[ASN][1000 genomes]
rs17103910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103917	1.00[AFR][1000 genomes]
rs17103924	1.00[ASN][1000 genomes]
rs17103933	1.00[AFR][1000 genomes]
rs17103940	1.00[AFR][1000 genomes]
rs17103943	1.00[AFR][1000 genomes]
rs17103973	1.00[ASN][1000 genomes]
rs17103977	1.00[ASN][1000 genomes]
rs17103990	1.00[ASN][1000 genomes]
rs17103993	1.00[AFR][1000 genomes]
rs17103998	1.00[ASN][1000 genomes]
rs17104000	1.00[ASN][1000 genomes]
rs17104010	1.00[ASN][1000 genomes]
rs17104020	1.00[ASN][1000 genomes]
rs17104024	1.00[ASN][1000 genomes]
rs17104026	1.00[AFR][1000 genomes]
rs17104041	1.00[ASN][1000 genomes]
rs17104064	1.00[ASN][1000 genomes]
rs17104066	1.00[AFR][1000 genomes]
rs17104067	1.00[ASN][1000 genomes]
rs17104069	1.00[AFR][1000 genomes]
rs17104095	1.00[ASN][1000 genomes]
rs17104096	1.00[ASN][1000 genomes]
rs17104097	1.00[AFR][1000 genomes]
rs17780682	1.00[ASN][1000 genomes]
rs17780694	1.00[ASN][1000 genomes]
rs17781220	1.00[ASN][1000 genomes]
rs1950686	1.00[AFR][1000 genomes]
rs1955611	1.00[ASN][1000 genomes]
rs2026652	1.00[AFR][1000 genomes]
rs2026653	1.00[ASN][1000 genomes]
rs2026654	1.00[AFR][1000 genomes]
rs2236334	1.00[ASN][1000 genomes]
rs2273835	1.00[ASN][1000 genomes]
rs2273836	1.00[ASN][1000 genomes]
rs3752992	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784076	1.00[ASN][1000 genomes]
rs3784077	1.00[ASN][1000 genomes]
rs3784080	1.00[ASN][1000 genomes]
rs41285536	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41299201	1.00[ASN][1000 genomes]
rs41301469	1.00[ASN][1000 genomes]
rs41477648	1.00[ASN][1000 genomes]
rs41525547	1.00[ASN][1000 genomes]
rs45561936	0.90[EUR][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	1.00[ASN][1000 genomes]
rs72715310	1.00[ASN][1000 genomes]
rs72715313	1.00[ASN][1000 genomes]
rs72715314	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715322	1.00[ASN][1000 genomes]
rs72715323	1.00[ASN][1000 genomes]
rs72715327	1.00[ASN][1000 genomes]
rs72715329	1.00[ASN][1000 genomes]
rs72715331	1.00[ASN][1000 genomes]
rs72715332	1.00[ASN][1000 genomes]
rs72715333	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715334	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];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	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715342	1.00[ASN][1000 genomes]
rs72715343	1.00[ASN][1000 genomes]
rs72715344	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715346	1.00[ASN][1000 genomes]
rs72715347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715351	1.00[ASN][1000 genomes]
rs72715353	1.00[ASN][1000 genomes]
rs72715354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715356	1.00[ASN][1000 genomes]
rs72715357	1.00[ASN][1000 genomes]
rs72715359	1.00[ASN][1000 genomes]
rs72715361	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715363	1.00[ASN][1000 genomes]
rs72715365	1.00[ASN][1000 genomes]
rs72715367	1.00[ASN][1000 genomes]
rs72715369	1.00[ASN][1000 genomes]
rs72715370	1.00[ASN][1000 genomes]
rs72715371	1.00[ASN][1000 genomes]
rs72715372	1.00[ASN][1000 genomes]
rs72715373	1.00[ASN][1000 genomes]
rs72715374	1.00[ASN][1000 genomes]
rs72715376	1.00[ASN][1000 genomes]
rs72715378	1.00[ASN][1000 genomes]
rs72715381	1.00[ASN][1000 genomes]
rs72715383	1.00[ASN][1000 genomes]
rs72715385	1.00[ASN][1000 genomes]
rs72715386	1.00[ASN][1000 genomes]
rs72715387	1.00[ASN][1000 genomes]
rs72715388	1.00[ASN][1000 genomes]
rs72715389	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715390	1.00[ASN][1000 genomes]
rs72715391	1.00[ASN][1000 genomes]
rs72715393	1.00[ASN][1000 genomes]
rs72715395	1.00[ASN][1000 genomes]
rs72715396	1.00[ASN][1000 genomes]
rs72715398	1.00[ASN][1000 genomes]
rs72715399	1.00[ASN][1000 genomes]
rs72715400	1.00[ASN][1000 genomes]
rs72715401	1.00[ASN][1000 genomes]
rs72715402	1.00[ASN][1000 genomes]
rs72717303	1.00[ASN][1000 genomes]
rs72717304	1.00[ASN][1000 genomes]
rs72717305	1.00[ASN][1000 genomes]
rs72717306	1.00[ASN][1000 genomes]
rs72717309	1.00[ASN][1000 genomes]
rs72717310	1.00[ASN][1000 genomes]
rs72717311	1.00[ASN][1000 genomes]
rs72717313	1.00[ASN][1000 genomes]
rs72717315	1.00[ASN][1000 genomes]
rs72717316	1.00[ASN][1000 genomes]
rs72717317	1.00[ASN][1000 genomes]
rs72717319	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717320	1.00[ASN][1000 genomes]
rs72717321	1.00[ASN][1000 genomes]
rs72717322	1.00[ASN][1000 genomes]
rs72717323	1.00[ASN][1000 genomes]
rs72717324	1.00[ASN][1000 genomes]
rs72717325	1.00[ASN][1000 genomes]
rs72717326	1.00[ASN][1000 genomes]
rs72717327	1.00[ASN][1000 genomes]
rs72717328	1.00[ASN][1000 genomes]
rs72717330	1.00[ASN][1000 genomes]
rs72717332	1.00[ASN][1000 genomes]
rs72717333	1.00[ASN][1000 genomes]
rs72717335	1.00[ASN][1000 genomes]
rs72717336	1.00[ASN][1000 genomes]
rs72717338	1.00[ASN][1000 genomes]
rs72717340	1.00[ASN][1000 genomes]
rs72717347	0.90[EUR][1000 genomes]
rs72717359	0.90[EUR][1000 genomes]
rs72717362	0.90[EUR][1000 genomes]
rs72717366	0.90[EUR][1000 genomes]
rs72717367	0.90[EUR][1000 genomes]
rs72717370	0.90[EUR][1000 genomes]
rs72717372	0.90[EUR][1000 genomes]
rs72717375	0.90[EUR][1000 genomes]
rs72717376	0.90[EUR][1000 genomes]
rs72717379	0.90[EUR][1000 genomes]
rs72717381	0.90[EUR][1000 genomes]
rs72717382	0.85[EUR][1000 genomes]
rs72717383	0.90[EUR][1000 genomes]
rs72728690	1.00[ASN][1000 genomes]
rs72728692	1.00[ASN][1000 genomes]
rs72728693	1.00[ASN][1000 genomes]
rs72728696	1.00[ASN][1000 genomes]
rs72728699	1.00[ASN][1000 genomes]
rs72728702	1.00[ASN][1000 genomes]
rs72730403	1.00[ASN][1000 genomes]
rs72730404	1.00[ASN][1000 genomes]
rs72730406	1.00[ASN][1000 genomes]
rs72730407	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730410	1.00[ASN][1000 genomes]
rs72730411	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730413	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730416	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730418	1.00[ASN][1000 genomes]
rs72730423	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730425	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730426	1.00[ASN][1000 genomes]
rs72730427	1.00[ASN][1000 genomes]
rs72730429	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730433	1.00[ASN][1000 genomes]
rs72730435	1.00[ASN][1000 genomes]
rs72730436	1.00[ASN][1000 genomes]
rs72730437	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	1.00[ASN][1000 genomes]
rs72730445	1.00[ASN][1000 genomes]
rs72730447	1.00[ASN][1000 genomes]
rs72730449	1.00[ASN][1000 genomes]
rs72730450	1.00[ASN][1000 genomes]
rs72730453	1.00[ASN][1000 genomes]
rs72730454	1.00[ASN][1000 genomes]
rs72730456	1.00[ASN][1000 genomes]
rs72730457	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67511600-67556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67527600-67551200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:67534800-67576400	Weak transcription	Pancreas	Pancrea
4	chr14:67545200-67555400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:67545200-67569600	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:67545200-67569800	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:67545200-67570400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:67545400-67572000	Weak transcription	Brain Substantia Nigra	brain
9	chr14:67545600-67558200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
11	chr14:67548800-67567400	Weak transcription	Left Ventricle	heart
12	chr14:67549000-67551600	Strong transcription	Liver	Liver
13	chr14:67549200-67562000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:67549200-67570800	Weak transcription	Psoas Muscle	Psoas
15	chr14:67549400-67561600	Weak transcription	Adipose Nuclei	Adipose
16	chr14:67549400-67569600	Weak transcription	Brain Anterior Caudate	brain
17	chr14:67549600-67568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:67549600-67569600	Weak transcription	Aorta	Aorta
19	chr14:67549800-67554000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:67549800-67554600	Weak transcription	Fetal Lung	lung
21	chr14:67550200-67571200	Weak transcription	Dnd41	blood
22	chr14:67551000-67589000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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