Variant report

Variant	rs2526867
Chromosome Location	chr14:71395966-71395967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10132789	0.84[AFR][1000 genomes]
rs10132984	0.84[AFR][1000 genomes]
rs10140225	0.91[CHB][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs10140917	0.92[CHB][hapmap];1.00[YRI][hapmap]
rs10145824	0.82[EUR][1000 genomes]
rs10148324	0.81[EUR][1000 genomes]
rs10150408	0.92[CHB][hapmap];1.00[YRI][hapmap]
rs1018977	0.81[JPT][hapmap]
rs116016	0.83[CHB][hapmap]
rs11623266	0.86[AMR][1000 genomes]
rs12100737	0.80[JPT][hapmap]
rs12101246	0.80[JPT][hapmap]
rs12896370	0.81[JPT][hapmap]
rs12896829	0.80[EUR][1000 genomes]
rs1468470	0.92[CHB][hapmap];1.00[YRI][hapmap]
rs1558097	0.92[CHB][hapmap];0.82[YRI][hapmap]
rs17108804	0.80[JPT][hapmap]
rs1859468	0.81[JPT][hapmap]
rs1978164	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs2010713	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs2097975	0.84[AFR][1000 genomes]
rs2158997	0.80[JPT][hapmap]
rs2189806	0.81[JPT][hapmap]
rs2189807	0.84[JPT][hapmap]
rs221924	0.90[CHB][hapmap]
rs2240341	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2240531	0.90[CHB][hapmap]
rs2251394	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286311	0.92[CHB][hapmap];0.95[YRI][hapmap]
rs2526847	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2526848	0.84[ASN][1000 genomes]
rs2526856	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2526859	0.92[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2526864	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2526871	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2526873	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2526874	0.81[JPT][hapmap]
rs2526875	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2526880	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2526881	0.90[ASN][1000 genomes]
rs2526883	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2526884	0.81[AMR][1000 genomes]
rs2810072	0.92[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2810073	0.80[JPT][hapmap]
rs2810074	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2810077	1.00[CHB][hapmap]
rs2810078	0.81[AMR][1000 genomes]
rs2810079	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs2810081	0.80[AMR][1000 genomes]
rs2810082	1.00[CHB][hapmap]
rs2810098	0.80[JPT][hapmap]
rs2810100	0.80[JPT][hapmap]
rs2810101	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2810109	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2810111	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2810113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2810117	0.84[JPT][hapmap]
rs2810118	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2877714	0.90[CHB][hapmap];0.81[YRI][hapmap]
rs3784067	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs3814871	0.80[JPT][hapmap]
rs4048474	0.80[JPT][hapmap]
rs4132848	0.92[CHB][hapmap];0.81[EUR][1000 genomes]
rs4147077	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4366661	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4391999	0.81[JPT][hapmap]
rs4467005	0.90[CHB][hapmap]
rs4531677	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4899382	0.81[CHB][hapmap]
rs6573994	0.92[CHB][hapmap];1.00[YRI][hapmap]
rs7143595	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs714421	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs7144986	0.92[CHB][hapmap];0.82[YRI][hapmap]
rs7145285	0.92[CHB][hapmap];1.00[YRI][hapmap]
rs7146591	0.81[JPT][hapmap]
rs7147862	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7150037	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7151145	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7152845	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7154437	0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs7156009	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7160958	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8003227	0.81[JPT][hapmap]
rs8004452	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8005160	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs8006046	0.81[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8007026	0.80[JPT][hapmap]
rs8007425	0.92[CHB][hapmap]
rs8008111	0.92[CHB][hapmap];0.82[YRI][hapmap]
rs8012728	0.80[JPT][hapmap]
rs8016506	0.81[JPT][hapmap]
rs8020480	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs8021824	0.92[CHB][hapmap];1.00[YRI][hapmap]
rs917065	0.80[JPT][hapmap]
rs917067	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9323556	0.92[CHB][hapmap];0.82[YRI][hapmap]
rs9323557	0.90[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs989501	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2526867	PCNX	cis	Nerve Tibial	GTEx
rs2526867	PCNX	Cis_1M	lymphoblastoid	RTeQTL
rs2526867	PCNX	cis	Artery Tibial	GTEx
rs2526867	PCNX	cis	Thyroid	GTEx
rs2526867	PCNX	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71375600-71398400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:71376000-71396800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:71376000-71401000	Weak transcription	Lung	lung
4	chr14:71376600-71398400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:71377400-71396800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:71378000-71400600	Weak transcription	Fetal Kidney	kidney
7	chr14:71379600-71408200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:71379600-71410400	Weak transcription	Aorta	Aorta
9	chr14:71380000-71398200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:71380400-71400800	Weak transcription	Fetal Intestine Large	intestine
11	chr14:71384000-71401200	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:71384200-71408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:71384600-71402000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:71386800-71396800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:71386800-71400600	Weak transcription	Fetal Stomach	stomach
16	chr14:71387000-71396600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:71387000-71398000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:71387200-71408400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:71388200-71402000	Weak transcription	HSMM	muscle
20	chr14:71388200-71410400	Weak transcription	Thymus	Thymus
21	chr14:71388400-71400800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:71388800-71396800	Weak transcription	HMEC	breast
23	chr14:71388800-71397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:71388800-71400200	Weak transcription	Fetal Intestine Small	intestine
25	chr14:71388800-71400400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:71388800-71400600	Weak transcription	NHLF	lung
27	chr14:71388800-71408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:71389000-71396200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr14:71389000-71396600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:71389000-71396800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:71389000-71396800	Weak transcription	NHEK	skin
32	chr14:71389000-71400400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:71389200-71398600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr14:71389800-71396800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:71389800-71396800	Weak transcription	NHDF-Ad	bronchial
36	chr14:71389800-71400600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr14:71392800-71401600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:71393200-71396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:71393200-71400800	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:71393400-71396400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:71393400-71396800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:71393400-71396800	Weak transcription	Psoas Muscle	Psoas
43	chr14:71393400-71396800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:71393400-71396800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:71393400-71396800	Weak transcription	Small Intestine	intestine
46	chr14:71393400-71397000	Weak transcription	Brain Substantia Nigra	brain
47	chr14:71393400-71397800	Weak transcription	Fetal Lung	lung
48	chr14:71393400-71397800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:71393400-71400200	Weak transcription	GM12878-XiMat	blood
50	chr14:71393400-71408800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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