Variant report

Variant	rs8014273
Chromosome Location	chr14:71509830-71509831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr14:71508898-71509969	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71496994..71499814-chr14:71507368..71509896,2	MCF-7	breast:

Variant related genes	Relation type
PCNX	TF binding region
ENSG00000258930	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1012725	0.84[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs12100737	0.81[AMR][1000 genomes]
rs12101246	0.81[AMR][1000 genomes]
rs12896370	0.81[AMR][1000 genomes]
rs17093738	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17108808	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17108862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17108877	0.81[AMR][1000 genomes]
rs17108925	0.81[AMR][1000 genomes]
rs17109053	0.90[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2158996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2158997	0.81[AMR][1000 genomes]
rs2240533	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2286310	0.81[AMR][1000 genomes]
rs2526850	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2526851	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2526854	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2526857	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2526858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2526868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2526872	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2526879	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2810075	0.83[AMR][1000 genomes]
rs2810096	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2810097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2810099	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2810104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2810105	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2810114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28374308	0.81[AMR][1000 genomes]
rs34257131	0.81[AMR][1000 genomes]
rs34368938	0.81[AMR][1000 genomes]
rs34488204	0.81[AMR][1000 genomes]
rs34763296	0.81[AMR][1000 genomes]
rs35631530	0.81[AMR][1000 genomes]
rs36555	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes]
rs36559	0.81[AMR][1000 genomes]
rs36567	0.81[AMR][1000 genomes]
rs3814869	0.81[AMR][1000 genomes]
rs3829954	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4048474	0.81[AMR][1000 genomes]
rs4132849	0.81[AMR][1000 genomes]
rs4426283	0.81[AMR][1000 genomes]
rs56021283	0.81[AMR][1000 genomes]
rs56043821	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56268907	0.83[AMR][1000 genomes]
rs56306703	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58133478	0.81[AMR][1000 genomes]
rs58984901	0.81[AMR][1000 genomes]
rs59699904	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61990379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61990380	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61990387	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61990419	0.80[AMR][1000 genomes]
rs61992065	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67188216	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145484	0.81[AMR][1000 genomes]
rs7146932	0.81[AMR][1000 genomes]
rs7153237	0.81[AMR][1000 genomes]
rs7157250	0.81[AMR][1000 genomes]
rs8003227	0.80[AMR][1000 genomes]
rs8007026	0.81[AMR][1000 genomes]
rs8010063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013146	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8016506	0.81[AMR][1000 genomes]
rs8181986	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

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	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
6	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
7	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
8	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
9	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
10	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
11	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats 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
12	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8014273	PCNX	cis	Artery Tibial	GTEx
rs8014273	PCNX	cis	normal skin	skin_eQTL
rs8014273	PCNX	cis	Nerve Tibial	GTEx
rs8014273	PCNX	cis	Artery Aorta	GTEx
rs8014273	PCNX	Cis_1M	lymphoblastoid	RTeQTL
rs8014273	PCNX	cis	Thyroid	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71445200-71510800	Weak transcription	Colonic Mucosa	Colon
2	chr14:71495800-71546200	Weak transcription	Stomach Mucosa	stomach
3	chr14:71497000-71554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:71498600-71510800	Weak transcription	Esophagus	oesophagus
5	chr14:71498800-71510800	Weak transcription	NHLF	lung
6	chr14:71499600-71540800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:71502000-71513600	Weak transcription	HepG2	liver
8	chr14:71502200-71511000	Weak transcription	HMEC	breast
9	chr14:71503000-71526400	Weak transcription	Gastric	stomach
10	chr14:71503400-71510800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:71503400-71510800	Weak transcription	Pancreas	Pancrea
12	chr14:71503400-71511000	Weak transcription	Small Intestine	intestine
13	chr14:71503400-71524400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:71503400-71526600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:71503400-71527200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:71503600-71510600	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:71503600-71510600	Weak transcription	Thymus	Thymus
18	chr14:71503600-71510600	Weak transcription	Hela-S3	cervix
19	chr14:71503600-71510800	Weak transcription	NHEK	skin
20	chr14:71503600-71519400	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:71505800-71511400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr14:71506000-71510000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:71506000-71510000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:71506000-71510000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr14:71506000-71510000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr14:71506000-71510000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr14:71506000-71510800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:71506000-71510800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr14:71506000-71511000	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr14:71506000-71511000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:71506000-71511000	ZNF genes & repeats	Fetal Lung	lung
32	chr14:71506000-71511200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr14:71506000-71511400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:71506000-71511600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr14:71506000-71511800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:71506000-71512600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:71506000-71515800	Strong transcription	HSMM	muscle
38	chr14:71506000-71516200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:71506400-71510600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:71506400-71510600	Weak transcription	Osteobl	bone
41	chr14:71506600-71510000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr14:71506600-71510400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:71506600-71510800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:71506600-71510800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:71506600-71512000	Weak transcription	NH-A	brain
46	chr14:71506600-71520800	Strong transcription	Liver	Liver
47	chr14:71506800-71510600	Weak transcription	Fetal Brain Male	brain
48	chr14:71506800-71510800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:71506800-71510800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:71506800-71510800	Weak transcription	Placenta	Placenta

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