Variant report

Variant	rs2526880
Chromosome Location	chr14:71375338-71375339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71368982..71370871-chr14:71374486..71376080,2	K562	blood:
2	chr14:71373548..71375387-chr14:71412068..71413840,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10132789	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10132984	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10140225	0.86[EUR][1000 genomes]
rs10140917	0.85[EUR][1000 genomes]
rs10145824	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10147068	0.81[EUR][1000 genomes]
rs10148324	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11623266	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12893492	0.82[EUR][1000 genomes]
rs12896829	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1978164	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2010713	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2097975	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2240341	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251394	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2286311	0.81[EUR][1000 genomes]
rs2332506	0.90[EUR][1000 genomes]
rs2526847	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2526848	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2526856	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2526859	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2526864	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2526871	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2526873	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2526875	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2526881	0.92[ASN][1000 genomes]
rs2526883	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2526884	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2526887	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2810072	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2810074	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2810077	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2810078	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2810079	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2810081	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2810082	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2810101	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2810109	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2810111	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2810113	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2810118	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2877708	0.86[EUR][1000 genomes]
rs3784067	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4132848	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4147077	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4366661	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4467005	0.85[EUR][1000 genomes]
rs4531677	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58938327	0.90[EUR][1000 genomes]
rs714421	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144986	0.90[EUR][1000 genomes]
rs7147862	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7150037	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7151145	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7154437	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7156009	0.82[EUR][1000 genomes]
rs7160958	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8004452	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8006046	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8007425	0.84[EUR][1000 genomes]
rs917067	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9323556	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9323557	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3323142	chr14:71373224-71375772	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3382652	chr14:71373549-71376347	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2526880	PCNX	cis	Skin Sun Exposed Lower leg	GTEx
rs2526880	PCNX	cis	Artery Tibial	GTEx
rs2526880	PCNX	cis	Thyroid	GTEx
rs2526880	PCNX	cis	Nerve Tibial	GTEx
rs2526880	PCNX	cis	Artery Aorta	GTEx
rs2526880	PCNX	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71373200-71376200	Active TSS	NHDF-Ad	bronchial
2	chr14:71373200-71376400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:71373400-71375400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr14:71373400-71375800	Active TSS	Brain Hippocampus Middle	brain
5	chr14:71373400-71375800	Active TSS	Brain Substantia Nigra	brain
6	chr14:71373400-71375800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:71373400-71375800	Active TSS	A549	lung
8	chr14:71373400-71376000	Active TSS	Ovary	ovary
9	chr14:71373400-71376000	Active TSS	Psoas Muscle	Psoas
10	chr14:71373400-71376200	Active TSS	Aorta	Aorta
11	chr14:71373400-71376200	Active TSS	Right Ventricle	heart
12	chr14:71373400-71377000	Active TSS	GM12878-XiMat	blood
13	chr14:71373600-71375400	Active TSS	Brain Angular Gyrus	brain
14	chr14:71373600-71375400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr14:71373600-71375400	Active TSS	Pancreas	Pancrea
16	chr14:71373600-71375600	Active TSS	Esophagus	oesophagus
17	chr14:71373600-71375800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:71373600-71375800	Active TSS	Colon Smooth Muscle	Colon
19	chr14:71373600-71375800	Active TSS	Fetal Intestine Large	intestine
20	chr14:71373600-71375800	Active TSS	Fetal Stomach	stomach
21	chr14:71373600-71375800	Active TSS	Rectal Smooth Muscle	rectum
22	chr14:71373600-71376000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr14:71373600-71376000	Active TSS	Fetal Muscle Trunk	muscle
24	chr14:71373600-71376000	Active TSS	Left Ventricle	heart
25	chr14:71373600-71376000	Active TSS	Lung	lung
26	chr14:71373600-71376400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:71373600-71376600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:71373600-71377800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr14:71373600-71378000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:71373800-71375400	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr14:71373800-71375400	Active TSS	Brain Cingulate Gyrus	brain
32	chr14:71373800-71375400	Active TSS	Duodenum Mucosa	Duodenum
33	chr14:71373800-71375600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:71373800-71375600	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr14:71373800-71375600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:71373800-71375600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:71373800-71375600	Active TSS	Liver	Liver
38	chr14:71373800-71375600	Active TSS	Brain Anterior Caudate	brain
39	chr14:71373800-71375600	Active TSS	Gastric	stomach
40	chr14:71373800-71375600	Active TSS	Small Intestine	intestine
41	chr14:71373800-71375600	Active TSS	Spleen	Spleen
42	chr14:71373800-71375600	Active TSS	Osteobl	bone
43	chr14:71373800-71375800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:71373800-71375800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr14:71373800-71375800	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr14:71373800-71375800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr14:71373800-71375800	Active TSS	Fetal Brain Female	brain
48	chr14:71373800-71375800	Active TSS	Fetal Intestine Small	intestine
49	chr14:71373800-71375800	Active TSS	Fetal Kidney	kidney
50	chr14:71373800-71375800	Active TSS	Placenta Amnion	Placenta Amnion

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