Variant report

Variant	rs13379445
Chromosome Location	chr14:67409792-67409793
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10132565	0.87[ASN][1000 genomes]
rs10135117	0.88[ASN][1000 genomes]
rs10135674	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10135701	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10136026	0.87[ASN][1000 genomes]
rs10136043	0.84[ASN][1000 genomes]
rs10136344	0.87[ASN][1000 genomes]
rs10140569	0.81[ASN][1000 genomes]
rs10141952	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10142152	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10142878	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10143670	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10147954	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10148117	0.86[ASN][1000 genomes]
rs10150098	0.89[ASN][1000 genomes]
rs10150268	0.80[ASN][1000 genomes]
rs10151405	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10151487	0.85[ASN][1000 genomes]
rs10162330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10220477	0.80[ASN][1000 genomes]
rs10873197	0.87[ASN][1000 genomes]
rs10873198	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11158647	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11158649	0.87[ASN][1000 genomes]
rs11158650	0.95[ASN][1000 genomes]
rs1138802	0.81[ASN][1000 genomes]
rs12323781	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12587989	0.80[ASN][1000 genomes]
rs12588821	0.86[ASN][1000 genomes]
rs12590085	0.88[ASN][1000 genomes]
rs13379476	0.87[ASN][1000 genomes]
rs13379478	0.89[ASN][1000 genomes]
rs17836604	0.86[ASN][1000 genomes]
rs1884066	0.86[ASN][1000 genomes]
rs1950281	0.85[ASN][1000 genomes]
rs1955604	0.85[ASN][1000 genomes]
rs1955605	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1957297	0.80[ASN][1000 genomes]
rs2013137	0.85[ASN][1000 genomes]
rs2038398	0.87[ASN][1000 genomes]
rs2064777	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2319549	0.88[ASN][1000 genomes]
rs28398007	0.88[ASN][1000 genomes]
rs28673894	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28817965	0.87[ASN][1000 genomes]
rs28850894	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4141703	0.80[ASN][1000 genomes]
rs58367317	0.88[ASN][1000 genomes]
rs60550390	0.83[ASN][1000 genomes]
rs60656960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61029022	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573720	0.83[AMR][1000 genomes]
rs6573734	0.81[ASN][1000 genomes]
rs6573735	0.85[ASN][1000 genomes]
rs6573736	0.84[ASN][1000 genomes]
rs6573737	0.85[ASN][1000 genomes]
rs6573740	0.86[ASN][1000 genomes]
rs6573741	0.87[ASN][1000 genomes]
rs6573742	0.82[ASN][1000 genomes]
rs68178754	0.85[ASN][1000 genomes]
rs7142068	0.84[ASN][1000 genomes]
rs7145844	0.88[ASN][1000 genomes]
rs7145917	0.82[ASN][1000 genomes]
rs7146098	0.85[ASN][1000 genomes]
rs7146635	0.85[ASN][1000 genomes]
rs7147570	0.85[ASN][1000 genomes]
rs7148911	0.80[ASN][1000 genomes]
rs7152001	0.82[ASN][1000 genomes]
rs7152422	0.85[ASN][1000 genomes]
rs7153936	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7155042	0.80[ASN][1000 genomes]
rs7156081	0.87[ASN][1000 genomes]
rs7156852	0.80[ASN][1000 genomes]
rs7158760	0.82[ASN][1000 genomes]
rs7160476	0.80[ASN][1000 genomes]
rs7161698	0.80[ASN][1000 genomes]
rs723432	0.84[ASN][1000 genomes]
rs728647	0.84[ASN][1000 genomes]
rs73274960	0.81[ASN][1000 genomes]
rs8003434	0.81[ASN][1000 genomes]
rs8005668	0.88[ASN][1000 genomes]
rs8006067	0.80[ASN][1000 genomes]
rs8008739	0.81[ASN][1000 genomes]
rs8012063	0.85[ASN][1000 genomes]
rs8013401	0.86[ASN][1000 genomes]
rs8013943	0.85[ASN][1000 genomes]
rs8016725	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8018750	0.84[ASN][1000 genomes]
rs8020095	0.85[ASN][1000 genomes]
rs8021044	0.84[ASN][1000 genomes]
rs8022657	0.85[ASN][1000 genomes]
rs9323489	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9743488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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	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	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
4	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
5	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
6	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
7	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
8	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
9	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13379445	ATP6V1D	cis	lung	GTEx
rs13379445	ATP6V1D	cis	Thyroid	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67381400-67411000	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67383600-67410000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:67387800-67411400	Weak transcription	Fetal Stomach	stomach
4	chr14:67391200-67409800	Weak transcription	Fetal Kidney	kidney
5	chr14:67399600-67411400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:67399800-67409800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:67400000-67410000	Weak transcription	NHEK	skin
8	chr14:67405000-67411800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:67405200-67416400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:67405800-67416400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr14:67406000-67414600	ZNF genes & repeats	Liver	Liver
12	chr14:67406000-67416200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr14:67406200-67414600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr14:67406200-67416400	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr14:67406800-67410000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:67406800-67410600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:67407200-67411600	Weak transcription	A549	lung
18	chr14:67407400-67410000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:67407400-67410400	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:67407400-67410800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:67407400-67411400	Weak transcription	Gastric	stomach
22	chr14:67407600-67410600	Weak transcription	Left Ventricle	heart
23	chr14:67407600-67411000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:67407600-67411400	Weak transcription	Esophagus	oesophagus
25	chr14:67407600-67411400	Weak transcription	Pancreas	Pancrea
26	chr14:67407800-67411000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:67408000-67410000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:67408000-67411000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:67408400-67414200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:67408400-67414600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:67408800-67411400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:67409000-67411000	Weak transcription	Lung	lung
33	chr14:67409000-67414000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:67409000-67414000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:67409200-67410200	Weak transcription	Primary hematopoietic stem cells	blood

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