Variant report

Variant	rs58383010
Chromosome Location	chr5:14320092-14320093
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14318688..14320392-chr5:14322958..14325742,2	MCF-7	breast:
2	chr5:14311393..14313647-chr5:14319084..14320830,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11133785	0.87[EUR][1000 genomes]
rs16903375	0.95[EUR][1000 genomes]
rs16903389	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1697168	0.95[EUR][1000 genomes]
rs1697170	0.93[EUR][1000 genomes]
rs2463803	0.93[EUR][1000 genomes]
rs60768136	0.87[EUR][1000 genomes]
rs62344973	1.00[EUR][1000 genomes]
rs62344976	0.87[EUR][1000 genomes]
rs62346588	0.95[EUR][1000 genomes]
rs62346590	1.00[EUR][1000 genomes]
rs6879505	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887831	0.95[EUR][1000 genomes]
rs697558	0.95[EUR][1000 genomes]
rs697559	0.95[EUR][1000 genomes]
rs7710935	0.87[EUR][1000 genomes]
rs7731443	0.87[EUR][1000 genomes]
rs7732548	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs773764	0.95[EUR][1000 genomes]
rs773765	0.95[EUR][1000 genomes]
rs773766	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
6	chr5:14303800-14323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:14304000-14323800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr5:14304200-14321800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:14305600-14321200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:14307600-14321400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:14307600-14321400	Strong transcription	NH-A	brain
13	chr5:14309200-14321200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:14309600-14326600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:14310200-14322200	Weak transcription	Fetal Brain Male	brain
16	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
17	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:14313600-14325000	Weak transcription	Fetal Heart	heart
19	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:14314000-14326800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:14314200-14323600	Strong transcription	HSMMtube	muscle
22	chr5:14314200-14325600	Weak transcription	Psoas Muscle	Psoas
23	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
24	chr5:14314600-14326800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr5:14314600-14338200	Strong transcription	HSMM	muscle
26	chr5:14314800-14326600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:14314800-14342200	Strong transcription	Osteobl	bone
28	chr5:14315000-14325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:14315200-14323200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:14315800-14321200	Strong transcription	NHDF-Ad	bronchial
31	chr5:14315800-14321400	Strong transcription	GM12878-XiMat	blood
32	chr5:14316000-14321800	Strong transcription	A549	lung
33	chr5:14316200-14321400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:14316200-14324000	Strong transcription	Fetal Intestine Large	intestine
35	chr5:14316200-14325800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:14316200-14332600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:14316400-14320400	Strong transcription	Fetal Intestine Small	intestine
38	chr5:14316400-14321400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:14316400-14321400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:14316400-14321400	Strong transcription	HMEC	breast
41	chr5:14316400-14321800	Strong transcription	Left Ventricle	heart
42	chr5:14316400-14322000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:14316400-14322200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:14316400-14322200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:14316400-14322200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr5:14316400-14322800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:14316400-14324000	Strong transcription	Adipose Nuclei	Adipose
48	chr5:14316400-14324000	Strong transcription	NHEK	skin
49	chr5:14316400-14326600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr5:14316600-14323800	Strong transcription	Fetal Stomach	stomach

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