Variant report

Variant	rs60656960
Chromosome Location	chr14:67426320-67426321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10132565	0.86[ASN][1000 genomes]
rs10135100	0.80[ASN][1000 genomes]
rs10135117	0.87[ASN][1000 genomes]
rs10135674	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10135701	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10136026	0.86[ASN][1000 genomes]
rs10136043	0.85[ASN][1000 genomes]
rs10136344	0.86[ASN][1000 genomes]
rs10140569	0.82[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];0.87[ASN][1000 genomes]
rs10142878	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10143670	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10147954	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10148117	0.87[ASN][1000 genomes]
rs10150098	0.88[ASN][1000 genomes]
rs10151405	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10151487	0.84[ASN][1000 genomes]
rs10162330	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10220477	0.81[ASN][1000 genomes]
rs10873197	0.86[ASN][1000 genomes]
rs10873198	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11158647	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11158649	0.86[ASN][1000 genomes]
rs11158650	0.96[ASN][1000 genomes]
rs1138802	0.82[ASN][1000 genomes]
rs12323781	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12588821	0.87[ASN][1000 genomes]
rs12590085	0.88[ASN][1000 genomes]
rs13379445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13379476	0.86[ASN][1000 genomes]
rs13379478	0.88[ASN][1000 genomes]
rs17836604	0.86[ASN][1000 genomes]
rs1884066	0.87[ASN][1000 genomes]
rs1950281	0.84[ASN][1000 genomes]
rs1955604	0.86[ASN][1000 genomes]
rs1955605	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1955608	0.80[ASN][1000 genomes]
rs1955609	0.80[ASN][1000 genomes]
rs1955610	0.80[ASN][1000 genomes]
rs2013137	0.87[ASN][1000 genomes]
rs2038398	0.85[ASN][1000 genomes]
rs2064777	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2319549	0.89[ASN][1000 genomes]
rs28398007	0.89[ASN][1000 genomes]
rs28673894	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28817965	0.85[ASN][1000 genomes]
rs28850894	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752993	0.81[ASN][1000 genomes]
rs58367317	0.87[ASN][1000 genomes]
rs60550390	0.85[ASN][1000 genomes]
rs61029022	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573720	0.83[AMR][1000 genomes]
rs6573735	0.84[ASN][1000 genomes]
rs6573736	0.82[ASN][1000 genomes]
rs6573737	0.84[ASN][1000 genomes]
rs6573740	0.87[ASN][1000 genomes]
rs6573741	0.89[ASN][1000 genomes]
rs6573742	0.84[ASN][1000 genomes]
rs6573749	0.81[ASN][1000 genomes]
rs68178754	0.84[ASN][1000 genomes]
rs7142068	0.85[ASN][1000 genomes]
rs7145844	0.87[ASN][1000 genomes]
rs7145917	0.81[ASN][1000 genomes]
rs7146098	0.84[ASN][1000 genomes]
rs7146635	0.84[ASN][1000 genomes]
rs7147570	0.84[ASN][1000 genomes]
rs7152001	0.84[ASN][1000 genomes]
rs7152422	0.84[ASN][1000 genomes]
rs7153936	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7155042	0.80[ASN][1000 genomes]
rs7156081	0.85[ASN][1000 genomes]
rs7158760	0.81[ASN][1000 genomes]
rs7159871	0.80[ASN][1000 genomes]
rs7161698	0.81[ASN][1000 genomes]
rs723432	0.82[ASN][1000 genomes]
rs728647	0.82[ASN][1000 genomes]
rs8003434	0.80[ASN][1000 genomes]
rs8005668	0.89[ASN][1000 genomes]
rs8008739	0.82[ASN][1000 genomes]
rs8012063	0.86[ASN][1000 genomes]
rs8013401	0.87[ASN][1000 genomes]
rs8013943	0.84[ASN][1000 genomes]
rs8016725	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8018750	0.85[ASN][1000 genomes]
rs8020095	0.86[ASN][1000 genomes]
rs8021044	0.85[ASN][1000 genomes]
rs8022657	0.84[ASN][1000 genomes]
rs9323489	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9743488	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	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
11	nsv902061	chr14:67418872-67482629	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs60656960	ATP6V1D	cis	lung	GTEx
rs60656960	ATP6V1D	cis	Thyroid	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67412600-67426800	Weak transcription	Stomach Mucosa	stomach
2	chr14:67414200-67431800	Weak transcription	Hela-S3	cervix
3	chr14:67414200-67433600	Weak transcription	Brain Angular Gyrus	brain
4	chr14:67414400-67434600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr14:67414600-67426400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:67414800-67443800	Weak transcription	Fetal Stomach	stomach
7	chr14:67414800-67480000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:67415600-67439200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:67415600-67486400	Weak transcription	Pancreas	Pancrea
10	chr14:67415800-67438200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:67416400-67491200	Weak transcription	Left Ventricle	heart
12	chr14:67418000-67491400	Weak transcription	Ovary	ovary
13	chr14:67424200-67426800	ZNF genes & repeats	Liver	Liver
14	chr14:67424200-67426800	ZNF genes & repeats	Dnd41	blood
15	chr14:67424200-67427600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:67424200-67428400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:67424400-67427000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr14:67424400-67427800	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr14:67424800-67456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:67424800-67499000	Weak transcription	Aorta	Aorta
21	chr14:67425000-67427600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:67425400-67432600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:67425800-67426800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:67425800-67426800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
25	chr14:67425800-67427600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:67426000-67426600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr14:67426000-67427200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:67426200-67426400	Weak transcription	Psoas Muscle	Psoas
29	chr14:67426200-67426800	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr14:67426200-67446000	Weak transcription	Fetal Kidney	kidney

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