Variant report

Variant	rs12323786
Chromosome Location	chr14:71632622-71632623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71631309..71633976-chr14:71786806..71788570,3	MCF-7	breast:
2	chr14:71630664..71636301-chr14:71785635..71788811,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11849257	0.91[CEU][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs2107670	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332536	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28406336	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4485279	0.83[CHB][hapmap]
rs4899384	0.83[CHB][hapmap]
rs4902899	0.83[CHB][hapmap]
rs56022326	0.84[ASN][1000 genomes]
rs61989172	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61989176	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61992087	0.81[ASN][1000 genomes]
rs757646	0.83[CHB][hapmap]
rs8005045	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016617	0.83[CHB][hapmap]
rs8018758	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021777	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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
rs12323786	PCNX	cis	parietal	SCAN
rs12323786	PCNX	Cis_1M	lymphoblastoid	RTeQTL
rs12323786	PCNX	cis	cerebellum	SCAN
rs12323786	COX16	cis	parietal	SCAN
rs12323786	DCAF5	cis	cerebellum	SCAN
rs12323786	PCNX	cis	Artery Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71629400-71632800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:71629400-71633400	Enhancers	Fetal Intestine Small	intestine
3	chr14:71629400-71633800	Enhancers	Liver	Liver
4	chr14:71629600-71633600	Enhancers	Fetal Intestine Large	intestine
5	chr14:71630200-71633000	Enhancers	Colonic Mucosa	Colon
6	chr14:71630400-71633000	Enhancers	Pancreas	Pancrea
7	chr14:71630400-71633200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr14:71630400-71633800	Enhancers	Fetal Kidney	kidney
9	chr14:71630600-71633400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:71630600-71633600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:71631000-71633400	Enhancers	Placenta	Placenta
12	chr14:71631200-71633000	Enhancers	Fetal Muscle Leg	muscle
13	chr14:71631400-71633200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:71631400-71633400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:71631600-71633000	Enhancers	Fetal Lung	lung
16	chr14:71631600-71633200	Enhancers	NHEK	skin
17	chr14:71631600-71633400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:71631600-71636600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:71631800-71632800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:71631800-71633400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:71631800-71633400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:71631800-71633400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr14:71631800-71633800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:71631800-71636600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:71632000-71633000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:71632000-71633000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr14:71632200-71636600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:71632400-71633000	Enhancers	Primary hematopoietic stem cells	blood
29	chr14:71632600-71633000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr14:71632600-71633200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr14:71632600-71633400	Enhancers	HepG2	liver
32	chr14:71632600-71633400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr14:71632600-71633400	Weak transcription	Osteobl	bone
34	chr14:71632600-71633600	Enhancers	Duodenum Mucosa	Duodenum
35	chr14:71632600-71634800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:71632600-71635200	Weak transcription	Right Atrium	heart

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