Variant report

Variant	rs13156954
Chromosome Location	chr5:124378486-124378487
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124373569..124376371-chr5:124376521..124378624,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11950485	0.84[EUR][1000 genomes]
rs11957892	0.82[EUR][1000 genomes]
rs13166517	0.97[EUR][1000 genomes]
rs13167636	0.95[EUR][1000 genomes]
rs13169162	0.82[EUR][1000 genomes]
rs13171701	0.95[EUR][1000 genomes]
rs13181069	0.87[EUR][1000 genomes]
rs13185999	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs34285348	0.97[EUR][1000 genomes]
rs34881137	0.97[EUR][1000 genomes]
rs34886855	0.89[EUR][1000 genomes]
rs35248489	0.95[EUR][1000 genomes]
rs35728314	0.95[EUR][1000 genomes]
rs35993487	0.87[EUR][1000 genomes]
rs35996109	1.00[EUR][1000 genomes]
rs36056892	0.97[EUR][1000 genomes]
rs36109016	0.95[EUR][1000 genomes]
rs4342331	0.97[EUR][1000 genomes]
rs4836143	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57154044	1.00[EUR][1000 genomes]
rs58039939	0.87[EUR][1000 genomes]
rs60700802	0.84[EUR][1000 genomes]
rs6883243	0.84[EUR][1000 genomes]
rs71594396	0.95[EUR][1000 genomes]
rs71594399	0.94[EUR][1000 genomes]
rs7733073	0.82[AFR][1000 genomes]
rs9686495	0.83[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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124365400-124379400	Weak transcription	Pancreas	Pancrea
2	chr5:124371600-124379600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:124374400-124379200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:124375000-124379600	Weak transcription	Fetal Thymus	thymus
5	chr5:124376400-124378800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:124376600-124378800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:124376600-124379000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:124376600-124382800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:124376800-124378600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:124377200-124378600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:124377200-124379000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:124377200-124380600	Enhancers	Adipose Nuclei	Adipose
13	chr5:124377200-124380600	Enhancers	Fetal Lung	lung
14	chr5:124377400-124378600	Enhancers	Fetal Heart	heart
15	chr5:124377400-124379000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:124377400-124379400	Enhancers	A549	lung
17	chr5:124377400-124380600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:124377400-124381000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:124377400-124381200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:124377600-124378600	Enhancers	Fetal Stomach	stomach
21	chr5:124377600-124378600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:124377600-124380000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:124377600-124380000	Enhancers	NH-A	brain
24	chr5:124377600-124380400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:124377600-124380800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:124377600-124381200	Enhancers	Fetal Kidney	kidney
27	chr5:124377600-124381800	Enhancers	NHDF-Ad	bronchial
28	chr5:124377800-124379400	Weak transcription	Right Atrium	heart
29	chr5:124377800-124379800	Enhancers	HSMMtube	muscle
30	chr5:124377800-124380400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:124377800-124381000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:124378000-124379200	Weak transcription	Osteobl	bone
33	chr5:124378000-124380800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:124378000-124385600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:124378200-124379000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:124378200-124379200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:124378200-124379200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:124378200-124379200	Weak transcription	Fetal Brain Male	brain
39	chr5:124378200-124379400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:124378200-124379400	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:124378200-124379400	Weak transcription	Left Ventricle	heart
42	chr5:124378200-124379400	Weak transcription	Psoas Muscle	Psoas
43	chr5:124378200-124379400	Weak transcription	Small Intestine	intestine
44	chr5:124378200-124379400	Weak transcription	Stomach Mucosa	stomach
45	chr5:124378200-124380600	Enhancers	NHLF	lung
46	chr5:124378200-124384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:124378400-124378800	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:124378400-124379400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:124378400-124379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:124378400-124379400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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