Variant report

Variant	rs2526882
Chromosome Location	chr14:71374702-71374703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71374157..71374728-chr2:38603975..38604567,2	Hela-S3	cervix:
2	chr14:71368982..71370871-chr14:71374486..71376080,2	K562	blood:
3	chr14:71373548..71375387-chr14:71412068..71413840,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119787	Chromatin interaction
ENSG00000100731	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1018977	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12100737	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12101246	0.85[AMR][1000 genomes]
rs12883437	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12892739	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12896370	0.85[AMR][1000 genomes]
rs17108804	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17108822	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17108877	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17108925	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17108967	0.82[AMR][1000 genomes]
rs1859468	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2010061	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2097866	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2158997	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2189806	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2189807	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286310	0.85[AMR][1000 genomes]
rs2332477	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2526846	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2526852	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2526855	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2526860	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2526862	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2526874	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2526876	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2526877	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2526878	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2526886	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2526890	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2810071	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2810073	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2810098	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2810100	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2810107	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2810115	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2810116	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2810117	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28374308	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34049963	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34257131	0.85[AMR][1000 genomes]
rs34368938	0.85[AMR][1000 genomes]
rs34488204	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34731365	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34763296	0.85[AMR][1000 genomes]
rs35631530	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3814869	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3814871	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4048474	0.85[AMR][1000 genomes]
rs4132849	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4391999	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4426283	0.85[AMR][1000 genomes]
rs56021283	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58133478	0.85[AMR][1000 genomes]
rs58984901	0.85[AMR][1000 genomes]
rs61990419	0.84[AMR][1000 genomes]
rs67981189	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7145484	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7146591	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7146932	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7153237	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7157250	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8003103	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8003227	0.84[AMR][1000 genomes]
rs8007026	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8012728	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8016506	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8022768	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs917065	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs989501	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[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
rs2526882	PCNX	cis	Artery Aorta	GTEx
rs2526882	PCNX	cis	Artery Tibial	GTEx
rs2526882	PCNX	cis	Nerve Tibial	GTEx
rs2526882	PCNX	cis	Thyroid	GTEx
rs2526882	PCNX	Cis_1M	lymphoblastoid	RTeQTL
rs2526882	PCNX	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71373000-71374800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:71373200-71374800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:71373200-71376200	Active TSS	NHDF-Ad	bronchial
4	chr14:71373200-71376400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:71373400-71375400	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr14:71373400-71375800	Active TSS	Brain Hippocampus Middle	brain
7	chr14:71373400-71375800	Active TSS	Brain Substantia Nigra	brain
8	chr14:71373400-71375800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:71373400-71375800	Active TSS	A549	lung
10	chr14:71373400-71376000	Active TSS	Ovary	ovary
11	chr14:71373400-71376000	Active TSS	Psoas Muscle	Psoas
12	chr14:71373400-71376200	Active TSS	Aorta	Aorta
13	chr14:71373400-71376200	Active TSS	Right Ventricle	heart
14	chr14:71373400-71377000	Active TSS	GM12878-XiMat	blood
15	chr14:71373600-71374800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:71373600-71375400	Active TSS	Brain Angular Gyrus	brain
17	chr14:71373600-71375400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr14:71373600-71375400	Active TSS	Pancreas	Pancrea
19	chr14:71373600-71375600	Active TSS	Esophagus	oesophagus
20	chr14:71373600-71375800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:71373600-71375800	Active TSS	Colon Smooth Muscle	Colon
22	chr14:71373600-71375800	Active TSS	Fetal Intestine Large	intestine
23	chr14:71373600-71375800	Active TSS	Fetal Stomach	stomach
24	chr14:71373600-71375800	Active TSS	Rectal Smooth Muscle	rectum
25	chr14:71373600-71376000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr14:71373600-71376000	Active TSS	Fetal Muscle Trunk	muscle
27	chr14:71373600-71376000	Active TSS	Left Ventricle	heart
28	chr14:71373600-71376000	Active TSS	Lung	lung
29	chr14:71373600-71376400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:71373600-71376600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:71373600-71377800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:71373600-71378000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:71373800-71375200	Active TSS	Placenta	Placenta
34	chr14:71373800-71375200	Active TSS	K562	blood
35	chr14:71373800-71375400	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr14:71373800-71375400	Active TSS	Brain Cingulate Gyrus	brain
37	chr14:71373800-71375400	Active TSS	Duodenum Mucosa	Duodenum
38	chr14:71373800-71375600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:71373800-71375600	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr14:71373800-71375600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:71373800-71375600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:71373800-71375600	Active TSS	Liver	Liver
43	chr14:71373800-71375600	Active TSS	Brain Anterior Caudate	brain
44	chr14:71373800-71375600	Active TSS	Gastric	stomach
45	chr14:71373800-71375600	Active TSS	Small Intestine	intestine
46	chr14:71373800-71375600	Active TSS	Spleen	Spleen
47	chr14:71373800-71375600	Active TSS	Osteobl	bone
48	chr14:71373800-71375800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:71373800-71375800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr14:71373800-71375800	Active TSS	Primary T killer memory cells from peripheral blood	blood

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