Variant report

Variant	rs62346562
Chromosome Location	chr5:14217041-14217042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14216973..14219606-chr5:14236627..14239606,2	MCF-7	breast:
2	chr5:14212915..14215891-chr5:14216884..14220454,4	MCF-7	breast:
3	chr5:14216252..14219175-chr5:14227535..14229395,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs152781	0.94[EUR][1000 genomes]
rs245513	0.94[EUR][1000 genomes]
rs26290	0.94[EUR][1000 genomes]
rs26292	0.94[EUR][1000 genomes]
rs27367	0.94[EUR][1000 genomes]
rs27632	0.94[EUR][1000 genomes]
rs27666	0.94[EUR][1000 genomes]
rs33028	0.94[EUR][1000 genomes]
rs33029	0.94[EUR][1000 genomes]
rs33030	0.89[EUR][1000 genomes]
rs42289	0.94[EUR][1000 genomes]
rs62344640	0.97[EUR][1000 genomes]
rs696289	0.88[EUR][1000 genomes]
rs696290	0.83[EUR][1000 genomes]

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	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14205400-14218800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:14206800-14218800	Weak transcription	Esophagus	oesophagus
3	chr5:14209000-14218000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14212200-14218000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:14212400-14218400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:14212400-14219000	Genic enhancers	HSMM	muscle
7	chr5:14213000-14223600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:14213200-14217800	Weak transcription	Stomach Mucosa	stomach
9	chr5:14213200-14218200	Enhancers	Thymus	Thymus
10	chr5:14213400-14217200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:14213400-14217600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:14213800-14217400	Weak transcription	Primary T cells from cord blood	blood
13	chr5:14214000-14217200	Weak transcription	Brain Anterior Caudate	brain
14	chr5:14214000-14217600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:14214200-14217400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:14214200-14217400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:14214200-14217400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:14214400-14217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:14214400-14218800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:14214600-14218200	Weak transcription	Fetal Kidney	kidney
21	chr5:14214800-14217200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr5:14214800-14220800	Enhancers	HepG2	liver
23	chr5:14215000-14222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:14215200-14219600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:14215200-14221000	Enhancers	NHDF-Ad	bronchial
26	chr5:14215200-14222800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr5:14215400-14220400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:14215400-14221600	Enhancers	GM12878-XiMat	blood
29	chr5:14215600-14217400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:14215600-14217600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr5:14215600-14218200	Enhancers	Fetal Thymus	thymus
32	chr5:14215600-14223400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr5:14215800-14217600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:14216000-14217400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:14216000-14218000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:14216000-14218000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:14216000-14218000	Enhancers	Psoas Muscle	Psoas
38	chr5:14216000-14218800	Enhancers	A549	lung
39	chr5:14216000-14218800	Enhancers	Osteobl	bone
40	chr5:14216000-14219200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:14216000-14219800	Enhancers	HMEC	breast
42	chr5:14216000-14220000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr5:14216000-14220600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:14216000-14221600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:14216000-14221600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr5:14216000-14222000	Enhancers	Primary B cells from peripheral blood	blood
47	chr5:14216000-14223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:14216000-14225800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:14216200-14217200	Enhancers	Brain Angular Gyrus	brain
50	chr5:14216200-14217200	Enhancers	Gastric	stomach

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