Variant report

Variant	rs2526848
Chromosome Location	chr14:71419742-71419743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10132789	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10132984	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10140225	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10140917	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10145824	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10147068	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10148324	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10150408	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11623266	0.88[EUR][1000 genomes]
rs12893492	0.81[EUR][1000 genomes]
rs12896829	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1468470	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1558097	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1978164	0.86[EUR][1000 genomes]
rs2010713	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2097975	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240341	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240531	0.80[ASN][1000 genomes]
rs2251394	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2286311	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2332506	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2332507	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2526847	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2526856	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2526859	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2526864	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2526871	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2526873	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2526875	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2526880	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2526881	0.82[ASN][1000 genomes]
rs2526883	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2526884	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2810072	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2810074	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2810077	0.80[EUR][1000 genomes]
rs2810078	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2810079	0.82[EUR][1000 genomes]
rs2810101	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2810109	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2810111	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2810113	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2810118	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2877708	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3784067	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4132848	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4147077	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4366661	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4467005	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4531677	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58938327	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573994	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs714421	0.82[EUR][1000 genomes]
rs7144986	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7145285	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7147862	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7150037	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151145	0.85[ASN][1000 genomes]
rs7152845	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7154437	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7156009	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7160958	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8004452	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8006046	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8007425	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8008111	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8020480	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8021824	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs917067	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9323556	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9323557	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9806042	0.82[AMR][1000 genomes];0.83[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	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2526848	PCNX	Cis_1M	lymphoblastoid	RTeQTL
rs2526848	PCNX	cis	Thyroid	GTEx
rs2526848	PCNX	cis	Artery Aorta	GTEx
rs2526848	PCNX	cis	Skin Sun Exposed Lower leg	GTEx
rs2526848	PCNX	cis	Nerve Tibial	GTEx
rs2526848	PCNX	cis	Artery Tibial	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71401000-71443800	Weak transcription	Right Ventricle	heart
2	chr14:71402200-71442800	Weak transcription	HSMMtube	muscle
3	chr14:71411000-71443200	Weak transcription	Hela-S3	cervix
4	chr14:71411000-71443600	Weak transcription	NHLF	lung
5	chr14:71411000-71443800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:71411000-71443800	Weak transcription	Gastric	stomach
7	chr14:71411200-71428400	Weak transcription	NH-A	brain
8	chr14:71411400-71429200	Weak transcription	HUVEC	blood vessel
9	chr14:71411400-71444000	Weak transcription	Brain Angular Gyrus	brain
10	chr14:71411800-71444200	Weak transcription	Fetal Brain Male	brain
11	chr14:71412800-71420000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:71414000-71433000	Weak transcription	NHEK	skin
13	chr14:71414400-71443400	Weak transcription	Fetal Kidney	kidney
14	chr14:71414800-71420800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:71414800-71422200	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:71414800-71422800	Weak transcription	Brain Substantia Nigra	brain
17	chr14:71414800-71428400	Weak transcription	HMEC	breast
18	chr14:71414800-71428800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:71414800-71436800	Weak transcription	Fetal Brain Female	brain
20	chr14:71414800-71438800	Weak transcription	Small Intestine	intestine
21	chr14:71414800-71443600	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:71414800-71443600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:71414800-71443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:71414800-71443800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:71415000-71419800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:71415000-71420800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:71415000-71421200	Weak transcription	Primary T cells from cord blood	blood
28	chr14:71415000-71423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:71415000-71429000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:71415000-71429600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:71415000-71430800	Weak transcription	Fetal Stomach	stomach
32	chr14:71415000-71435600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:71415000-71436000	Weak transcription	Brain Germinal Matrix	brain
34	chr14:71415000-71436000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:71415000-71436200	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:71415000-71436200	Weak transcription	Ovary	ovary
37	chr14:71415000-71436400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:71415000-71443200	Weak transcription	Spleen	Spleen
39	chr14:71415000-71443400	Weak transcription	Esophagus	oesophagus
40	chr14:71415000-71443600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:71415000-71443600	Weak transcription	Aorta	Aorta
42	chr14:71415000-71443600	Weak transcription	Lung	lung
43	chr14:71415000-71443600	Weak transcription	Pancreas	Pancrea
44	chr14:71415000-71443800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:71415200-71420000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:71415200-71420400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:71415200-71420800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr14:71415200-71428800	Weak transcription	Thymus	Thymus
49	chr14:71415200-71434600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:71416400-71431200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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