Variant report

Variant	rs5020583
Chromosome Location	chr14:45565305-45565306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:45565012-45565943	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45552156..45555644-chr14:45564630..45569930,7	MCF-7	breast:
2	chr14:45553008..45555497-chr14:45563019..45565816,4	MCF-7	breast:

Variant related genes	Relation type
PRPF39	TF binding region
ENSG00000249163	Chromatin interaction
ENSG00000185246	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10135653	1.00[JPT][hapmap]
rs10147491	1.00[MEX][hapmap]
rs12437023	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs226983	1.00[MEX][hapmap]
rs28408667	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45554000-45568600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:45554000-45585400	Weak transcription	Gastric	stomach
3	chr14:45554400-45568600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:45554400-45578800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:45554400-45585400	Weak transcription	Esophagus	oesophagus
6	chr14:45554600-45565400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:45554600-45576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:45554800-45565400	Weak transcription	Fetal Stomach	stomach
10	chr14:45555000-45565600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:45555000-45569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:45555000-45577000	Weak transcription	Aorta	Aorta
13	chr14:45555000-45586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:45555200-45565600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:45555200-45579000	Weak transcription	Stomach Mucosa	stomach
16	chr14:45555400-45565400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:45555400-45565600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:45555400-45569200	Weak transcription	Right Ventricle	heart
19	chr14:45555400-45574600	Weak transcription	Ovary	ovary
20	chr14:45555600-45565400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:45555800-45573600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:45556000-45565800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:45556200-45573800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:45556400-45582000	Weak transcription	Fetal Brain Male	brain
25	chr14:45556600-45565400	Weak transcription	Fetal Lung	lung
26	chr14:45557400-45602200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:45558000-45571800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:45558400-45565800	Weak transcription	Colonic Mucosa	Colon
29	chr14:45558600-45565400	Weak transcription	Brain Anterior Caudate	brain
30	chr14:45558600-45565600	Weak transcription	Brain Substantia Nigra	brain
31	chr14:45558800-45565600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:45559000-45565600	Weak transcription	Left Ventricle	heart
33	chr14:45559000-45568600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:45559000-45591800	Weak transcription	Small Intestine	intestine
35	chr14:45559200-45569200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:45559800-45565600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:45560000-45569400	Weak transcription	NHLF	lung
38	chr14:45560200-45565800	Weak transcription	Fetal Heart	heart
39	chr14:45560200-45582000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:45560200-45599800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:45560600-45565400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:45560800-45565600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:45560800-45565600	Weak transcription	Psoas Muscle	Psoas
44	chr14:45560800-45567200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:45561400-45565400	Weak transcription	NHDF-Ad	bronchial
46	chr14:45562000-45599200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:45562200-45565400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:45563400-45566400	Strong transcription	Hela-S3	cervix
49	chr14:45563400-45579200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:45563400-45598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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