Variant report

Variant	rs2302143
Chromosome Location	chr14:72945012-72945013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72942498..72946263-chr14:72947951..72951671,4	MCF-7	breast:
2	chr14:72935777..72938192-chr14:72944033..72947024,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10132956	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12432358	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115530	0.84[JPT][hapmap]
rs2283378	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2302144	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3819548	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4903022	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2302143	PCNX	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72919400-72945200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:72923800-72946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72936000-72946200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:72940400-72946000	Weak transcription	Fetal Brain Female	brain
5	chr14:72942200-72947600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:72942400-72947000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:72942600-72945800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:72942800-72945200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:72942800-72947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:72943000-72945600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:72943000-72947200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:72943000-72948400	Enhancers	Fetal Thymus	thymus
13	chr14:72943200-72945600	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:72943200-72946800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:72943200-72947000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:72943600-72945200	Weak transcription	K562	blood
17	chr14:72943600-72945400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:72943800-72945200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:72943800-72945400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:72943800-72945400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr14:72943800-72946800	Enhancers	HSMMtube	muscle
22	chr14:72944000-72945200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:72944000-72945400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:72944000-72945800	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:72944000-72946000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:72944000-72946200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:72944000-72947400	Weak transcription	Fetal Heart	heart
28	chr14:72944000-72948400	Enhancers	Primary T cells from cord blood	blood
29	chr14:72944000-72949200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:72944000-72957600	Weak transcription	Left Ventricle	heart
31	chr14:72944200-72945400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:72944200-72945400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:72944200-72945600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:72944200-72946000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:72944200-72947400	Enhancers	Dnd41	blood
36	chr14:72944400-72945600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr14:72944400-72946400	Weak transcription	Placenta	Placenta
38	chr14:72944400-72946800	Enhancers	Fetal Kidney	kidney
39	chr14:72944400-72947800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr14:72944600-72945400	Flanking Active TSS	GM12878-XiMat	blood
41	chr14:72944600-72945800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr14:72944800-72946400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr14:72944800-72946400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:72944800-72946400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:72944800-72947200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:72944800-72947400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:72944800-72947600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:72944800-72948000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:72945000-72945800	Bivalent Enhancer	NH-A	brain
50	chr14:72945000-72946000	Weak transcription	Primary hematopoietic stem cells	blood

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