Variant report

Variant	rs2810118
Chromosome Location	chr14:71388575-71388576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71372741..71377071-chr14:71387271..71391625,6	MCF-7	breast:
2	chr14:71381579..71383875-chr14:71386950..71389719,2	MCF-7	breast:
3	chr14:71386633..71388150-chr14:71388348..71391134,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10132789	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10132984	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10140225	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10140917	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10145824	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10147068	0.82[EUR][1000 genomes]
rs10148324	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10150408	0.81[EUR][1000 genomes]
rs11623266	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12893492	0.83[EUR][1000 genomes]
rs12896829	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1468470	0.81[EUR][1000 genomes]
rs1558097	0.81[EUR][1000 genomes]
rs1978164	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2010713	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2097975	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240341	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240531	0.81[EUR][1000 genomes]
rs2251394	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2286311	0.82[EUR][1000 genomes]
rs2332506	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2332507	0.80[EUR][1000 genomes]
rs2526847	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2526848	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2526856	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526859	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2526864	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2526871	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2526873	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526875	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2526880	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2526881	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2526883	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2526884	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2526887	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2810072	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2810074	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2810077	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2810078	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2810079	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2810101	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2810109	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2810111	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2810113	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2877708	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3784067	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4132848	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4147077	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4366661	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4467005	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4531677	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58938327	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573994	0.81[EUR][1000 genomes]
rs714421	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7144986	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145285	0.81[EUR][1000 genomes]
rs7147862	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7150037	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7151145	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7152845	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7154437	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7156009	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7160958	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8004452	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8006046	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8007425	0.85[EUR][1000 genomes]
rs8008111	0.81[EUR][1000 genomes]
rs8020480	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8021824	0.81[EUR][1000 genomes]
rs917067	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9323556	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9323557	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9806042	0.81[EUR][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	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2810118	PCNX	cis	Nerve Tibial	GTEx
rs2810118	PCNX	cis	Artery Tibial	GTEx
rs2810118	PCNX	cis	Artery Aorta	GTEx
rs2810118	PCNX	cis	Skin Sun Exposed Lower leg	GTEx
rs2810118	PCNX	cis	Thyroid	GTEx
rs2810118	PCNX	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:90 , 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	chr14:71376600-71389000	Weak transcription	HSMMtube	muscle
5	chr14:71376600-71398400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:71377400-71391400	Weak transcription	Esophagus	oesophagus
7	chr14:71377400-71395000	Weak transcription	Brain Angular Gyrus	brain
8	chr14:71377400-71396800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:71378000-71393000	Weak transcription	Right Atrium	heart
10	chr14:71378000-71400600	Weak transcription	Fetal Kidney	kidney
11	chr14:71379600-71392800	Weak transcription	Ovary	ovary
12	chr14:71379600-71408200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:71379600-71410400	Weak transcription	Aorta	Aorta
14	chr14:71380000-71398200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:71380400-71400800	Weak transcription	Fetal Intestine Large	intestine
16	chr14:71380600-71394200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:71381000-71392600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:71381400-71394000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr14:71381600-71394400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr14:71382400-71388800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr14:71382400-71391200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:71382400-71394200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:71382600-71389000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr14:71384000-71389400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:71384000-71392200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:71384000-71401200	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:71384200-71388800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:71384200-71393000	Weak transcription	Fetal Brain Female	brain
29	chr14:71384200-71395000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:71384200-71408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:71384400-71389400	Enhancers	Primary T cells from cord blood	blood
32	chr14:71384400-71389800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:71384600-71402000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:71384800-71390200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:71385200-71388800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:71385200-71388800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr14:71385200-71389000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:71385400-71388800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:71385600-71389200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:71385800-71389000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:71385800-71389000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:71385800-71390800	Weak transcription	Small Intestine	intestine
43	chr14:71386000-71388800	Enhancers	Osteobl	bone
44	chr14:71386000-71389000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr14:71386000-71389000	Enhancers	A549	lung
46	chr14:71386200-71388800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:71386400-71389800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr14:71386600-71388800	Enhancers	HMEC	breast
49	chr14:71386600-71388800	Enhancers	NHDF-Ad	bronchial
50	chr14:71386600-71388800	Enhancers	NHLF	lung

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