Variant report

Variant	rs73253005
Chromosome Location	chr5:114860161-114860162
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	chr5:114856363..114859247-chr5:114859922..114862071,2	K562	blood:
2	chr5:114857751..114862120-chr5:114862571..114865082,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1363550	0.93[AFR][1000 genomes]
rs1422641	0.82[AFR][1000 genomes]
rs1422643	0.93[AFR][1000 genomes]
rs1422644	0.89[AFR][1000 genomes]
rs1592942	0.93[AFR][1000 genomes]
rs1592943	0.91[AFR][1000 genomes]
rs17137937	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17138030	0.80[EUR][1000 genomes]
rs1895283	0.83[AFR][1000 genomes]
rs1978441	0.81[AFR][1000 genomes]
rs2052504	0.94[AFR][1000 genomes]
rs2052505	0.91[AFR][1000 genomes]
rs2288384	0.81[AMR][1000 genomes]
rs2431600	0.96[AFR][1000 genomes]
rs2546483	0.93[AFR][1000 genomes]
rs256960	0.83[AFR][1000 genomes]
rs256961	0.83[AFR][1000 genomes]
rs4920867	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4920869	0.80[EUR][1000 genomes]
rs57010629	0.81[AMR][1000 genomes]
rs60640600	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9326965	0.89[AFR][1000 genomes]
rs9968571	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
2	chr5:114848000-114860400	Weak transcription	Esophagus	oesophagus
3	chr5:114848400-114860200	Weak transcription	Aorta	Aorta
4	chr5:114848600-114860200	Weak transcription	Thymus	Thymus
5	chr5:114853600-114860200	Weak transcription	Fetal Brain Male	brain
6	chr5:114853800-114863000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:114854600-114870200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:114855400-114860200	Weak transcription	NHEK	skin
9	chr5:114855400-114863600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:114856800-114864200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:114856800-114871000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:114857000-114860200	Weak transcription	Colonic Mucosa	Colon
13	chr5:114857000-114863000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:114857200-114860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:114857200-114860200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:114857200-114860200	Weak transcription	Pancreas	Pancrea
17	chr5:114857200-114863000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:114857400-114860200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:114857600-114866400	Strong transcription	Dnd41	blood
20	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:114858000-114861600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:114858000-114863000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:114858200-114861200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:114858200-114861400	Strong transcription	HSMM	muscle
25	chr5:114858200-114861400	Strong transcription	K562	blood
26	chr5:114858200-114862600	Strong transcription	HUVEC	blood vessel
27	chr5:114858200-114863000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:114858200-114863200	Genic enhancers	NHDF-Ad	bronchial
29	chr5:114858200-114863400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:114858400-114860200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:114858400-114861000	Strong transcription	NH-A	brain
32	chr5:114858400-114861400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:114858400-114861800	Strong transcription	Hela-S3	cervix
34	chr5:114858400-114862800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr5:114858400-114863000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr5:114858600-114860200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:114858600-114861200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr5:114858600-114861200	Strong transcription	Fetal Lung	lung
39	chr5:114858600-114861600	Strong transcription	Placenta	Placenta
40	chr5:114858600-114863000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:114858600-114863200	Strong transcription	Primary B cells from cord blood	blood
42	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:114858800-114860400	Genic enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:114858800-114861000	Strong transcription	Left Ventricle	heart
45	chr5:114858800-114861200	Strong transcription	A549	lung
46	chr5:114858800-114861400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:114858800-114861400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:114858800-114861400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr5:114858800-114862800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:114858800-114876200	Weak transcription	Fetal Stomach	stomach

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