Variant report

Variant	rs34093157
Chromosome Location	chr14:71568683-71568684
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71568448..71570902-chr14:71575240..71577944,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12101246	0.84[EUR][1000 genomes]
rs12896370	0.80[EUR][1000 genomes]
rs17108967	0.83[EUR][1000 genomes]
rs221909	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs221912	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs221920	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs221921	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs221922	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs221923	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs221927	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2286310	0.80[EUR][1000 genomes]
rs34257131	0.80[EUR][1000 genomes]
rs34368938	0.84[EUR][1000 genomes]
rs34763296	0.84[EUR][1000 genomes]
rs4048474	0.84[EUR][1000 genomes]
rs4426283	0.84[EUR][1000 genomes]
rs58133478	0.84[EUR][1000 genomes]
rs58984901	0.81[EUR][1000 genomes]
rs61990419	0.81[EUR][1000 genomes]
rs8003227	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
9	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
10	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
rs34093157	PCNX	cis	Skin Sun Exposed Lower leg	GTEx
rs34093157	PCNX	cis	Artery Tibial	GTEx
rs34093157	PCNX	Cis_1M	lymphoblastoid	RTeQTL
rs34093157	PCNX	cis	Nerve Tibial	GTEx
rs34093157	PCNX	cis	Thyroid	GTEx
rs34093157	PCNX	cis	Artery Aorta	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71538800-71584800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:71544400-71568800	Weak transcription	Gastric	stomach
3	chr14:71544800-71571800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:71544800-71572000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:71544800-71575400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:71544800-71581400	Weak transcription	Small Intestine	intestine
7	chr14:71545400-71570000	Weak transcription	Psoas Muscle	Psoas
8	chr14:71545400-71572000	Weak transcription	Hela-S3	cervix
9	chr14:71545400-71574800	Weak transcription	NHLF	lung
10	chr14:71552000-71588400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:71552400-71571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:71552600-71568800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:71553600-71569000	Weak transcription	Esophagus	oesophagus
14	chr14:71553600-71575200	Weak transcription	Aorta	Aorta
15	chr14:71553600-71575200	Weak transcription	Right Ventricle	heart
16	chr14:71553600-71575400	Weak transcription	Spleen	Spleen
17	chr14:71556000-71575400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:71556000-71582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:71556400-71574800	Weak transcription	Pancreas	Pancrea
20	chr14:71556400-71576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:71556400-71583000	Weak transcription	Brain Substantia Nigra	brain
22	chr14:71557000-71568800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:71557200-71573600	Weak transcription	Fetal Heart	heart
24	chr14:71557200-71576000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:71557200-71582000	Weak transcription	HUVEC	blood vessel
26	chr14:71557400-71575400	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:71557800-71568800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:71557800-71575200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:71558000-71570000	Weak transcription	Brain Angular Gyrus	brain
30	chr14:71558200-71568800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:71558800-71568800	Weak transcription	GM12878-XiMat	blood
32	chr14:71558800-71568800	Weak transcription	HepG2	liver
33	chr14:71558800-71570200	Weak transcription	A549	lung
34	chr14:71558800-71576400	Weak transcription	Fetal Kidney	kidney
35	chr14:71558800-71576600	Weak transcription	Colonic Mucosa	Colon
36	chr14:71559000-71568800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr14:71559000-71568800	Weak transcription	HMEC	breast
38	chr14:71559000-71571800	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:71559200-71568800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:71559400-71570000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:71559600-71568800	Weak transcription	Fetal Muscle Leg	muscle
42	chr14:71559600-71568800	Weak transcription	Placenta	Placenta
43	chr14:71559600-71568800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:71559600-71575400	Weak transcription	Brain Germinal Matrix	brain
45	chr14:71559800-71568800	Weak transcription	Fetal Stomach	stomach
46	chr14:71559800-71568800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:71559800-71568800	Weak transcription	Thymus	Thymus
48	chr14:71559800-71570200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:71559800-71575200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:71559800-71575400	Weak transcription	Brain Cingulate Gyrus	brain

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