Variant report

Variant	rs58221168
Chromosome Location	chr14:67568611-67568612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10047906	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10131242	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10131984	0.80[ASN][1000 genomes]
rs10132088	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10134592	0.85[ASN][1000 genomes]
rs10135100	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10136073	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10137618	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10138631	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10138850	0.89[ASN][1000 genomes]
rs10138865	0.89[ASN][1000 genomes]
rs10139792	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10141815	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10141947	0.82[ASN][1000 genomes]
rs10144371	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10145508	0.82[ASN][1000 genomes]
rs10145511	0.80[ASN][1000 genomes]
rs10146304	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10149600	0.81[ASN][1000 genomes]
rs10150098	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10150424	0.82[AMR][1000 genomes]
rs10151487	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10220477	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10483793	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158651	0.82[AMR][1000 genomes]
rs12590689	0.85[ASN][1000 genomes]
rs13379478	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17248252	0.98[ASN][1000 genomes]
rs17248357	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17248421	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1918483	0.89[ASN][1000 genomes]
rs1950284	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1955608	0.81[AMR][1000 genomes]
rs1955610	0.82[AMR][1000 genomes]
rs2038398	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2039055	0.87[ASN][1000 genomes]
rs2295903	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28368552	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28662990	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28685619	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3752993	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3784078	0.85[ASN][1000 genomes]
rs3866760	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59774616	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573729	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6573735	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6573737	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6573743	0.81[AMR][1000 genomes]
rs6573744	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6573745	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573746	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573749	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573750	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6573751	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573752	0.83[ASN][1000 genomes]
rs6573754	0.87[ASN][1000 genomes]
rs6573755	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144434	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7144580	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7145005	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7146098	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7146638	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7147207	0.81[ASN][1000 genomes]
rs7147534	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7148044	0.86[ASN][1000 genomes]
rs7148425	0.86[ASN][1000 genomes]
rs7150089	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150739	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7150934	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7151086	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7152217	0.86[ASN][1000 genomes]
rs7152231	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7154905	0.80[ASN][1000 genomes]
rs7155042	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7156081	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7156119	0.84[ASN][1000 genomes]
rs7157394	0.98[ASN][1000 genomes]
rs7157418	0.97[ASN][1000 genomes]
rs7158228	0.98[ASN][1000 genomes]
rs7161698	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7493580	0.87[ASN][1000 genomes]
rs768770	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8005981	0.80[ASN][1000 genomes]
rs8006281	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008739	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8009087	0.91[ASN][1000 genomes]
rs8010261	0.82[ASN][1000 genomes]
rs8012944	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8013724	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8022437	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9323493	0.84[ASN][1000 genomes]
rs9323494	0.80[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58221168	ATP6V1D	cis	lung	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67534800-67576400	Weak transcription	Pancreas	Pancrea
2	chr14:67545200-67569600	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:67545200-67569800	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:67545200-67570400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:67545400-67572000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
7	chr14:67549200-67570800	Weak transcription	Psoas Muscle	Psoas
8	chr14:67549400-67569600	Weak transcription	Brain Anterior Caudate	brain
9	chr14:67549600-67568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:67549600-67569600	Weak transcription	Aorta	Aorta
11	chr14:67550200-67571200	Weak transcription	Dnd41	blood
12	chr14:67551000-67589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:67551200-67568800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:67553600-67569400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:67553800-67569400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:67554400-67569400	Weak transcription	Fetal Brain Female	brain
17	chr14:67554600-67604200	Weak transcription	HMEC	breast
18	chr14:67555000-67571000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:67555400-67589600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:67555400-67589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:67557600-67568800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:67558600-67589600	Weak transcription	Right Ventricle	heart
23	chr14:67559000-67570800	Weak transcription	Brain Angular Gyrus	brain
24	chr14:67561400-67569000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:67561800-67570400	Weak transcription	Adipose Nuclei	Adipose
26	chr14:67562000-67568800	Weak transcription	Fetal Intestine Small	intestine
27	chr14:67562200-67578800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:67562600-67593800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:67563600-67589600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:67565800-67568800	Weak transcription	Ovary	ovary
31	chr14:67566200-67570600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:67567000-67568800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:67567000-67593200	Weak transcription	Lung	lung
34	chr14:67567200-67570000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:67567200-67571000	Strong transcription	Liver	Liver
36	chr14:67567600-67568800	Weak transcription	Left Ventricle	heart
37	chr14:67567800-67568800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:67568000-67568800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:67568000-67569400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:67568000-67569400	Weak transcription	Fetal Lung	lung
41	chr14:67568000-67618400	Weak transcription	Gastric	stomach

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