Variant report

Variant	rs2810072
Chromosome Location	chr14:71387193-71387194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71381579..71383875-chr14:71386950..71389719,2	MCF-7	breast:
2	chr14:71379419..71381346-chr14:71385671..71388258,2	MCF-7	breast:
3	chr14:71386633..71388150-chr14:71388348..71391134,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10132789	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10132984	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10140225	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10140917	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10145824	0.88[EUR][1000 genomes]
rs10148324	0.88[EUR][1000 genomes]
rs11623266	0.87[EUR][1000 genomes]
rs12893492	0.80[AFR][1000 genomes]
rs12896829	0.86[EUR][1000 genomes]
rs1468470	0.82[AFR][1000 genomes]
rs1978164	0.85[EUR][1000 genomes]
rs2010713	0.87[EUR][1000 genomes]
rs2097975	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2240341	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2251394	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2286311	0.83[AFR][1000 genomes]
rs2332506	0.85[EUR][1000 genomes]
rs2526847	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2526848	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2526856	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2526859	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2526864	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2526871	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2526873	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2526875	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2526880	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2526883	0.87[EUR][1000 genomes]
rs2526884	0.85[EUR][1000 genomes]
rs2810074	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2810078	0.84[EUR][1000 genomes]
rs2810079	0.80[EUR][1000 genomes]
rs2810101	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2810109	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2810111	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2810113	0.83[ASN][1000 genomes]
rs2810118	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2877708	0.83[EUR][1000 genomes]
rs3784067	0.82[EUR][1000 genomes]
rs4132848	0.88[EUR][1000 genomes]
rs4147077	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4366661	0.88[EUR][1000 genomes]
rs4467005	0.82[EUR][1000 genomes]
rs4531677	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs58938327	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6573994	0.83[AFR][1000 genomes]
rs714421	0.80[EUR][1000 genomes]
rs7144986	0.85[EUR][1000 genomes]
rs7147862	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7150037	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7151145	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7152845	0.83[AFR][1000 genomes]
rs7154437	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7156009	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7160958	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8004452	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8006046	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8007425	0.81[EUR][1000 genomes]
rs8020480	0.83[AFR][1000 genomes]
rs8021824	0.82[AFR][1000 genomes]
rs917067	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9323556	0.85[EUR][1000 genomes]
rs9323557	0.87[AFR][1000 genomes];0.85[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
rs2810072	PCNX	cis	Skin Sun Exposed Lower leg	GTEx
rs2810072	PCNX	Cis_1M	lymphoblastoid	RTeQTL
rs2810072	PCNX	cis	Artery Tibial	GTEx
rs2810072	PCNX	cis	Thyroid	GTEx
rs2810072	PCNX	cis	Nerve Tibial	GTEx
rs2810072	PCNX	cis	Artery Aorta	GTEx

Chromatin state (count:98 , 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	chr14:71377400-71387400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:71377400-71391400	Weak transcription	Esophagus	oesophagus
8	chr14:71377400-71395000	Weak transcription	Brain Angular Gyrus	brain
9	chr14:71377400-71396800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:71378000-71393000	Weak transcription	Right Atrium	heart
11	chr14:71378000-71400600	Weak transcription	Fetal Kidney	kidney
12	chr14:71379600-71392800	Weak transcription	Ovary	ovary
13	chr14:71379600-71408200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:71379600-71410400	Weak transcription	Aorta	Aorta
15	chr14:71380000-71387200	Weak transcription	Hela-S3	cervix
16	chr14:71380000-71398200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:71380400-71400800	Weak transcription	Fetal Intestine Large	intestine
18	chr14:71380600-71394200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr14:71381000-71392600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:71381400-71394000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:71381600-71394400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:71382400-71388800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr14:71382400-71391200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:71382400-71394200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr14:71382600-71389000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr14:71384000-71389400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:71384000-71392200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:71384000-71401200	Weak transcription	Fetal Muscle Leg	muscle
29	chr14:71384200-71388800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:71384200-71393000	Weak transcription	Fetal Brain Female	brain
31	chr14:71384200-71395000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:71384200-71408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:71384400-71389400	Enhancers	Primary T cells from cord blood	blood
34	chr14:71384400-71389800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:71384600-71402000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:71384800-71388400	Enhancers	Primary hematopoietic stem cells	blood
37	chr14:71384800-71390200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:71385200-71388800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:71385200-71388800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr14:71385200-71389000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:71385400-71387400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr14:71385400-71388200	Enhancers	Adipose Nuclei	Adipose
43	chr14:71385400-71388800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:71385600-71387400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr14:71385600-71387600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:71385600-71387800	Enhancers	NH-A	brain
47	chr14:71385600-71388000	Weak transcription	Brain Anterior Caudate	brain
48	chr14:71385600-71388200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr14:71385600-71389200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:71385800-71389000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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