Variant report

Variant	rs4342331
Chromosome Location	chr5:124380526-124380527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11950485	0.81[EUR][1000 genomes]
rs11957892	0.84[EUR][1000 genomes]
rs13156954	0.97[EUR][1000 genomes]
rs13166517	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13167636	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13171701	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13181069	0.89[EUR][1000 genomes]
rs13185999	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs34285348	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34881137	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34886855	0.92[EUR][1000 genomes]
rs35248489	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35728314	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35993487	0.89[EUR][1000 genomes]
rs35996109	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36056892	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36109016	0.92[EUR][1000 genomes]
rs4836143	0.95[EUR][1000 genomes]
rs57154044	0.97[EUR][1000 genomes]
rs58039939	0.89[EUR][1000 genomes]
rs60700802	0.81[EUR][1000 genomes]
rs6883243	0.81[EUR][1000 genomes]
rs71594396	0.92[EUR][1000 genomes]
rs71594399	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9686495	0.81[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124376600-124382800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:124377200-124380600	Enhancers	Adipose Nuclei	Adipose
3	chr5:124377200-124380600	Enhancers	Fetal Lung	lung
4	chr5:124377400-124380600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr5:124377400-124381000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:124377400-124381200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:124377600-124380800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:124377600-124381200	Enhancers	Fetal Kidney	kidney
9	chr5:124377600-124381800	Enhancers	NHDF-Ad	bronchial
10	chr5:124377800-124381000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:124378000-124380800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:124378000-124385600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:124378200-124380600	Enhancers	NHLF	lung
14	chr5:124378200-124384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:124378400-124382200	Enhancers	HUVEC	blood vessel
16	chr5:124378600-124381600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:124378600-124383000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:124378800-124380600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:124378800-124381600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:124379000-124380600	Enhancers	Liver	Liver
21	chr5:124379000-124380600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:124379000-124380800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:124379000-124380800	Enhancers	Fetal Stomach	stomach
24	chr5:124379000-124381600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:124379000-124388200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:124379200-124380600	Enhancers	NHEK	skin
27	chr5:124379200-124380800	Enhancers	Fetal Heart	heart
28	chr5:124379200-124380800	Enhancers	HMEC	breast
29	chr5:124379200-124380800	Enhancers	Osteobl	bone
30	chr5:124379200-124381400	Enhancers	Fetal Brain Male	brain
31	chr5:124379200-124382800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:124379400-124380600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:124379400-124380600	Enhancers	Esophagus	oesophagus
34	chr5:124379400-124380600	Enhancers	Left Ventricle	heart
35	chr5:124379400-124380600	Enhancers	Psoas Muscle	Psoas
36	chr5:124379400-124380600	Enhancers	Right Atrium	heart
37	chr5:124379400-124380600	Enhancers	Right Ventricle	heart
38	chr5:124379400-124380600	Enhancers	HSMM	muscle
39	chr5:124379400-124380800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:124379400-124380800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:124379400-124380800	Enhancers	Pancreas	Pancrea
42	chr5:124379400-124381000	Enhancers	Fetal Muscle Leg	muscle
43	chr5:124379600-124380600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:124379600-124380600	Enhancers	Brain Germinal Matrix	brain
45	chr5:124379600-124380600	Enhancers	Duodenum Mucosa	Duodenum
46	chr5:124379600-124380600	Enhancers	Lung	lung
47	chr5:124379800-124380600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr5:124379800-124380800	Flanking Active TSS	HSMMtube	muscle
49	chr5:124380000-124380600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:124380000-124381000	Enhancers	Small Intestine	intestine

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