Variant report

Variant	rs72728673
Chromosome Location	chr14:67280653-67280654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10483790	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[ASN][1000 genomes]
rs17182817	1.00[ASN][1000 genomes]
rs17182886	1.00[ASN][1000 genomes]
rs17780490	1.00[ASN][1000 genomes]
rs17780526	1.00[ASN][1000 genomes]
rs17780682	1.00[ASN][1000 genomes]
rs17780694	1.00[ASN][1000 genomes]
rs1955611	1.00[ASN][1000 genomes]
rs55980059	1.00[ASN][1000 genomes]
rs56007522	1.00[ASN][1000 genomes]
rs56034749	1.00[ASN][1000 genomes]
rs56078060	1.00[ASN][1000 genomes]
rs56289007	1.00[ASN][1000 genomes]
rs56292859	1.00[ASN][1000 genomes]
rs72715303	1.00[ASN][1000 genomes]
rs72715304	1.00[ASN][1000 genomes]
rs72726406	1.00[ASN][1000 genomes]
rs72726407	1.00[ASN][1000 genomes]
rs72726416	1.00[ASN][1000 genomes]
rs72726418	1.00[ASN][1000 genomes]
rs72726419	1.00[ASN][1000 genomes]
rs72726424	1.00[ASN][1000 genomes]
rs72726426	1.00[ASN][1000 genomes]
rs72726429	1.00[ASN][1000 genomes]
rs72726430	1.00[ASN][1000 genomes]
rs72726432	1.00[ASN][1000 genomes]
rs72726433	1.00[ASN][1000 genomes]
rs72726434	1.00[ASN][1000 genomes]
rs72726438	1.00[ASN][1000 genomes]
rs72726440	1.00[ASN][1000 genomes]
rs72726444	1.00[ASN][1000 genomes]
rs72726447	1.00[ASN][1000 genomes]
rs72726457	1.00[ASN][1000 genomes]
rs72726458	1.00[ASN][1000 genomes]
rs72726459	1.00[ASN][1000 genomes]
rs72726462	1.00[ASN][1000 genomes]
rs72726479	1.00[ASN][1000 genomes]
rs72726480	1.00[ASN][1000 genomes]
rs72726482	1.00[ASN][1000 genomes]
rs72726487	1.00[ASN][1000 genomes]
rs72726490	1.00[ASN][1000 genomes]
rs72726491	1.00[ASN][1000 genomes]
rs72726494	1.00[ASN][1000 genomes]
rs72726496	1.00[ASN][1000 genomes]
rs72726500	1.00[ASN][1000 genomes]
rs72728611	1.00[ASN][1000 genomes]
rs72728617	1.00[ASN][1000 genomes]
rs72728626	1.00[ASN][1000 genomes]
rs72728632	1.00[ASN][1000 genomes]
rs72728643	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728644	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72728646	1.00[ASN][1000 genomes]
rs72728650	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728652	1.00[ASN][1000 genomes]
rs72728660	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728662	1.00[ASN][1000 genomes]
rs72728665	1.00[ASN][1000 genomes]
rs72728670	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728675	1.00[ASN][1000 genomes]
rs72728678	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728679	1.00[ASN][1000 genomes]
rs72728680	1.00[ASN][1000 genomes]
rs72728682	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728685	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72728688	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728689	1.00[ASN][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	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730410	1.00[ASN][1000 genomes]
rs72730411	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730413	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730416	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730418	1.00[ASN][1000 genomes]
rs72730423	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730425	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730426	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730427	1.00[ASN][1000 genomes]
rs72730429	1.00[AMR][1000 genomes];0.95[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:24 , 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	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv902057	chr14:67276310-67308900	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67257600-67282000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67273200-67282600	Weak transcription	Fetal Brain Male	brain
3	chr14:67278600-67281400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:67278600-67285400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:67278800-67282600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:67279200-67281600	Weak transcription	NHEK	skin
7	chr14:67279600-67282000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:67280000-67280800	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr14:67280000-67281000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:67280000-67281000	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:67280000-67281000	ZNF genes & repeats	GM12878-XiMat	blood
12	chr14:67280000-67281200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr14:67280000-67281200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr14:67280000-67281200	Strong transcription	Liver	Liver
15	chr14:67280000-67281200	Strong transcription	Brain Angular Gyrus	brain
16	chr14:67280000-67281200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:67280000-67281200	ZNF genes & repeats	Esophagus	oesophagus
18	chr14:67280000-67281200	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr14:67280000-67281200	ZNF genes & repeats	Pancreas	Pancrea
20	chr14:67280000-67281200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr14:67280000-67281400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:67280000-67281400	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr14:67280000-67281400	Strong transcription	Left Ventricle	heart
24	chr14:67280000-67281400	Strong transcription	Right Ventricle	heart
25	chr14:67280000-67281600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:67280000-67281600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr14:67280000-67281600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:67280000-67282400	ZNF genes & repeats	Dnd41	blood
29	chr14:67280000-67282800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:67280000-67283000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:67280200-67280800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:67280200-67280800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:67280200-67280800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:67280200-67280800	Strong transcription	Fetal Muscle Leg	muscle
35	chr14:67280200-67280800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr14:67280200-67280800	ZNF genes & repeats	Small Intestine	intestine
37	chr14:67280200-67281000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:67280200-67281000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:67280200-67281000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr14:67280200-67281000	Strong transcription	Gastric	stomach
41	chr14:67280200-67281000	Strong transcription	A549	lung
42	chr14:67280200-67281200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:67280200-67281200	ZNF genes & repeats	Colonic Mucosa	Colon
44	chr14:67280200-67281200	ZNF genes & repeats	Fetal Stomach	stomach
45	chr14:67280200-67281200	ZNF genes & repeats	Spleen	Spleen
46	chr14:67280200-67281400	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr14:67280200-67281400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr14:67280200-67281400	Strong transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:67280200-67281400	ZNF genes & repeats	Lung	lung
50	chr14:67280200-67281600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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