Variant report

Variant	rs7732548
Chromosome Location	chr5:14305049-14305050
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	chr5:14304339..14306802-chr5:14309090..14311429,2	MCF-7	breast:
2	chr5:14298239..14300379-chr5:14303550..14306461,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11133785	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11949756	0.82[CEU][hapmap]
rs11950000	0.82[CEU][hapmap]
rs12109756	0.82[CEU][hapmap]
rs12110161	0.82[CEU][hapmap]
rs16903375	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903389	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903460	0.82[CEU][hapmap]
rs16903464	0.82[CEU][hapmap]
rs1697168	1.00[EUR][1000 genomes]
rs1697170	0.97[EUR][1000 genomes]
rs2463803	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs58383010	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60768136	0.83[EUR][1000 genomes]
rs62344973	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62344976	0.83[EUR][1000 genomes]
rs62346588	1.00[EUR][1000 genomes]
rs62346590	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6879505	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6887831	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs696290	0.83[EUR][1000 genomes]
rs697558	1.00[EUR][1000 genomes]
rs697559	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7710935	0.83[EUR][1000 genomes]
rs7731443	0.83[EUR][1000 genomes]
rs773764	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs773765	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs773766	1.00[CEU][hapmap];1.00[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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
3	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
11	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
12	chr5:14291600-14308400	Weak transcription	Fetal Kidney	kidney
13	chr5:14294600-14308200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:14295600-14313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:14297800-14306200	Weak transcription	Brain Angular Gyrus	brain
16	chr5:14297800-14316600	Weak transcription	Brain Substantia Nigra	brain
17	chr5:14298000-14308600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:14298000-14316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:14298000-14316600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:14298200-14305200	Weak transcription	Colonic Mucosa	Colon
21	chr5:14298200-14306600	Weak transcription	Esophagus	oesophagus
22	chr5:14298200-14307800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:14298200-14308800	Weak transcription	Gastric	stomach
24	chr5:14298400-14309400	Weak transcription	Fetal Brain Male	brain
25	chr5:14299000-14314400	Strong transcription	Adipose Nuclei	Adipose
26	chr5:14299200-14315400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:14299600-14305200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:14299600-14306200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:14299600-14308600	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:14299800-14308400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:14300000-14306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:14300000-14311600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:14300000-14313200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:14300000-14316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:14300200-14305200	Weak transcription	Primary T cells from cord blood	blood
36	chr5:14300400-14305200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:14300400-14305600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:14300400-14310200	Weak transcription	Fetal Thymus	thymus
39	chr5:14300600-14306000	Weak transcription	Brain Germinal Matrix	brain
40	chr5:14301200-14305200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:14301200-14314000	Strong transcription	HepG2	liver
42	chr5:14301600-14306600	Weak transcription	Brain Anterior Caudate	brain
43	chr5:14301600-14307200	Weak transcription	Placenta	Placenta
44	chr5:14301800-14310400	Weak transcription	Spleen	Spleen
45	chr5:14302000-14305200	Weak transcription	Pancreas	Pancrea
46	chr5:14302000-14310400	Weak transcription	Fetal Lung	lung
47	chr5:14302000-14313200	Weak transcription	Psoas Muscle	Psoas
48	chr5:14302200-14305200	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:14302800-14305600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:14303000-14307600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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