Variant report

Variant	rs72755140
Chromosome Location	chr5:59893962-59893963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72755142	0.96[AMR][1000 genomes];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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59873000-59908600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:59873000-59908800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:59873200-59911000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:59875400-59895800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:59875400-59895800	Weak transcription	Fetal Thymus	thymus
6	chr5:59875400-59899400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:59875400-59911000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:59883400-59894200	Weak transcription	Placenta	Placenta
9	chr5:59884800-59909200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:59885000-59895800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:59885200-59895000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:59885400-59894400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:59886600-59894400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:59887600-59925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:59889000-59900800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:59889200-59900600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:59889200-59900800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:59889400-59911000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:59890200-59911000	Weak transcription	Fetal Intestine Small	intestine
20	chr5:59890400-59901600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:59890800-59897600	Strong transcription	HepG2	liver
22	chr5:59891000-59911200	Weak transcription	Fetal Intestine Large	intestine
23	chr5:59891200-59894200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:59891200-59896400	Weak transcription	HUVEC	blood vessel
25	chr5:59891200-59909200	Weak transcription	HMEC	breast
26	chr5:59891200-59926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:59891400-59894400	Weak transcription	Fetal Lung	lung
28	chr5:59892000-59894800	Enhancers	Primary T cells from cord blood	blood
29	chr5:59892000-59912200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:59892200-59894000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:59892200-59898600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:59892200-59898600	Weak transcription	K562	blood
33	chr5:59892400-59894000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:59892400-59894000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:59892800-59894600	Enhancers	Primary B cells from cord blood	blood
36	chr5:59892800-59895800	Enhancers	Dnd41	blood
37	chr5:59893000-59894800	Flanking Active TSS	GM12878-XiMat	blood
38	chr5:59893000-59911000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:59893200-59894000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr5:59893200-59894000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr5:59893400-59894000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:59893400-59894000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr5:59893400-59894000	Active TSS	Osteobl	bone
44	chr5:59893400-59894200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:59893400-59894400	Enhancers	Primary B cells from peripheral blood	blood
46	chr5:59893400-59894400	Active TSS	Aorta	Aorta
47	chr5:59893400-59894600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:59893400-59895600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:59893400-59896200	Weak transcription	Small Intestine	intestine
50	chr5:59893400-59897600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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