Variant report

Variant	rs73751952
Chromosome Location	chr5:15505672-15505673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10059008	1.00[EUR][1000 genomes]
rs10063263	1.00[EUR][1000 genomes]
rs10077393	1.00[EUR][1000 genomes]
rs11133817	1.00[EUR][1000 genomes]
rs13356380	1.00[EUR][1000 genomes]
rs1529487	1.00[EUR][1000 genomes]
rs16903864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903892	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs188592	1.00[EUR][1000 genomes]
rs2402164	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28713425	1.00[EUR][1000 genomes]
rs28716171	1.00[EUR][1000 genomes]
rs2896211	1.00[EUR][1000 genomes]
rs304557	1.00[EUR][1000 genomes]
rs304559	1.00[EUR][1000 genomes]
rs304560	1.00[EUR][1000 genomes]
rs304561	1.00[EUR][1000 genomes]
rs304562	1.00[EUR][1000 genomes]
rs4701626	1.00[EUR][1000 genomes]
rs4701628	1.00[EUR][1000 genomes]
rs4701629	1.00[EUR][1000 genomes]
rs4702074	1.00[EUR][1000 genomes]
rs4702075	1.00[EUR][1000 genomes]
rs4702077	1.00[EUR][1000 genomes]
rs512861	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs572051	1.00[EUR][1000 genomes]
rs575014	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57991493	1.00[EUR][1000 genomes]
rs598853	1.00[EUR][1000 genomes]
rs609984	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs623156	1.00[EUR][1000 genomes]
rs633807	1.00[EUR][1000 genomes]
rs652985	1.00[EUR][1000 genomes]
rs6554885	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs683393	1.00[EUR][1000 genomes]
rs685706	1.00[EUR][1000 genomes]
rs73751955	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709371	1.00[EUR][1000 genomes]
rs7717617	1.00[EUR][1000 genomes]
rs9312884	1.00[EUR][1000 genomes]
rs9312886	1.00[EUR][1000 genomes]
rs9968651	1.00[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	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv965544	chr5:15502274-15507654	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15501600-15512000	Weak transcription	Small Intestine	intestine
2	chr5:15501800-15511000	Weak transcription	Lung	lung
3	chr5:15501800-15523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:15502000-15511600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:15502000-15515000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:15502000-15522200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:15502400-15509200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:15502600-15510800	Weak transcription	Aorta	Aorta
9	chr5:15502600-15522400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:15502600-15535400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:15502800-15506200	Weak transcription	Fetal Kidney	kidney
12	chr5:15502800-15506800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:15502800-15507000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:15502800-15509800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:15502800-15510600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:15502800-15513600	Weak transcription	Right Ventricle	heart
17	chr5:15502800-15514600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:15502800-15521400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:15503000-15506800	Weak transcription	Adipose Nuclei	Adipose
20	chr5:15503000-15507000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:15503000-15509000	Weak transcription	NHDF-Ad	bronchial
22	chr5:15503000-15509200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:15503000-15509200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:15503000-15509200	Weak transcription	NHLF	lung
25	chr5:15503000-15509200	Weak transcription	Osteobl	bone
26	chr5:15503000-15510400	Weak transcription	NH-A	brain
27	chr5:15503200-15509200	Weak transcription	HSMMtube	muscle
28	chr5:15503400-15509200	Weak transcription	Right Atrium	heart
29	chr5:15503400-15509400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:15503400-15521000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:15503600-15510800	Weak transcription	Left Ventricle	heart
32	chr5:15503800-15506800	Strong transcription	Fetal Muscle Leg	muscle
33	chr5:15503800-15509200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:15503800-15509800	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:15503800-15510200	Weak transcription	HUVEC	blood vessel
36	chr5:15503800-15510600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:15503800-15521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:15504200-15510400	Weak transcription	Dnd41	blood
39	chr5:15504200-15511600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:15504400-15509200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:15504600-15506000	Enhancers	Colon Smooth Muscle	Colon
42	chr5:15504600-15511200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:15504600-15512000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:15504600-15521200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:15504800-15509600	Weak transcription	Brain Anterior Caudate	brain
46	chr5:15505000-15505800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr5:15505000-15506000	Enhancers	Fetal Stomach	stomach
48	chr5:15505200-15509200	Weak transcription	HSMM	muscle
49	chr5:15505200-15511000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:15505200-15512600	Enhancers	Fetal Heart	heart

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