Variant report

Variant	rs72717333
Chromosome Location	chr14:67645743-67645744
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr14:67645293-67645887	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
GPHN	TF binding region

Extended variants
information (count: 164 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10483792	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10483794	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483795	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]
rs17103853	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17103856	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17103859	1.00[ASN][1000 genomes]
rs17103876	1.00[ASN][1000 genomes]
rs17103879	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17103896	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17103910	1.00[ASN][1000 genomes]
rs17103924	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17103973	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17103977	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103990	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103998	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104000	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104010	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17104020	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17104024	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104041	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17104064	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104067	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104095	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17104096	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17781220	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955611	1.00[ASN][1000 genomes]
rs2026653	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236334	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273836	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752992	1.00[ASN][1000 genomes]
rs3784076	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3784077	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3784080	1.00[ASN][1000 genomes]
rs41285536	1.00[ASN][1000 genomes]
rs41299201	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41301469	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41477648	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41525547	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56264248	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	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715310	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715313	1.00[ASN][1000 genomes]
rs72715314	1.00[ASN][1000 genomes]
rs72715322	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715323	1.00[ASN][1000 genomes]
rs72715327	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715329	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715331	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715332	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715334	1.00[ASN][1000 genomes]
rs72715335	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715336	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715338	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715339	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715340	1.00[ASN][1000 genomes]
rs72715342	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715343	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715344	1.00[ASN][1000 genomes]
rs72715346	0.84[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	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715353	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715354	1.00[ASN][1000 genomes]
rs72715355	1.00[ASN][1000 genomes]
rs72715356	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715357	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715359	1.00[ASN][1000 genomes]
rs72715361	1.00[ASN][1000 genomes]
rs72715363	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715365	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715367	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715369	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715370	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715371	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715372	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715373	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715376	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715378	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715381	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715383	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715385	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715386	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715388	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715389	1.00[ASN][1000 genomes]
rs72715390	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715391	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715393	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715395	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715396	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715398	1.00[ASN][1000 genomes]
rs72715399	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715400	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715401	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72715402	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72717303	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717304	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717306	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717309	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717311	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717313	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717315	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717316	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717317	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717319	1.00[ASN][1000 genomes]
rs72717320	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72717321	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717323	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717324	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717325	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717326	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717328	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72717330	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717332	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717335	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72717336	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717338	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717340	0.94[AMR][1000 genomes];1.00[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[ASN][1000 genomes]
rs72730429	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	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730447	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730449	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730450	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72730453	0.84[AMR][1000 genomes];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:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67600800-67647400	Weak transcription	Fetal Kidney	kidney
2	chr14:67614400-67653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:67618400-67658200	Weak transcription	Brain Angular Gyrus	brain
4	chr14:67631600-67645800	Weak transcription	Psoas Muscle	Psoas
5	chr14:67634600-67653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:67635000-67652800	Weak transcription	NHEK	skin
7	chr14:67635000-67653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:67639400-67646200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:67639600-67647400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:67639600-67647400	Weak transcription	Right Ventricle	heart
11	chr14:67639600-67658600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:67639800-67647400	Weak transcription	Gastric	stomach
13	chr14:67640000-67647000	Weak transcription	Pancreas	Pancrea
14	chr14:67640200-67645800	Weak transcription	Fetal Stomach	stomach
15	chr14:67640200-67646000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:67640200-67649600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:67640400-67646200	Weak transcription	Ovary	ovary
18	chr14:67640400-67646800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:67640400-67647400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:67640600-67646800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:67645200-67645800	ZNF genes & repeats	Colon Smooth Muscle	Colon
22	chr14:67645200-67646400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr14:67645200-67647800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:67645400-67645800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:67645400-67645800	ZNF genes & repeats	Liver	Liver
26	chr14:67645400-67645800	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr14:67645400-67645800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
28	chr14:67645400-67646000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:67645400-67646000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:67645400-67646000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
31	chr14:67645400-67647000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr14:67645400-67653000	Weak transcription	HSMM	muscle
33	chr14:67645600-67645800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
34	chr14:67645600-67645800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
35	chr14:67645600-67646000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr14:67645600-67646000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr14:67645600-67646000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
38	chr14:67645600-67646200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr14:67645600-67646400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:67645600-67646400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:67645600-67646400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr14:67645600-67646400	ZNF genes & repeats	Fetal Brain Female	brain
43	chr14:67645600-67646400	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr14:67645600-67648200	Strong transcription	Aorta	Aorta

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