Variant report

Variant	rs73751955
Chromosome Location	chr5:15511222-15511223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs188592	1.00[EUR][1000 genomes]
rs2402164	0.98[AFR][1000 genomes];1.00[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	1.00[EUR][1000 genomes]
rs572051	1.00[EUR][1000 genomes]
rs575014	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57991493	1.00[EUR][1000 genomes]
rs598853	1.00[EUR][1000 genomes]
rs609984	1.00[EUR][1000 genomes]
rs623156	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs633807	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs652985	1.00[EUR][1000 genomes]
rs6554885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs683393	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs685706	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751952	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:4 , 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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15501600-15512000	Weak transcription	Small Intestine	intestine
2	chr5:15501800-15523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:15502000-15511600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:15502000-15515000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:15502000-15522200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:15502600-15522400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:15502600-15535400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:15502800-15513600	Weak transcription	Right Ventricle	heart
9	chr5:15502800-15514600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:15502800-15521400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:15503400-15521000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:15503800-15521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:15504200-15511600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:15504600-15512000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:15504600-15521200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:15505200-15512600	Enhancers	Fetal Heart	heart
17	chr5:15505800-15517400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:15506000-15511400	Weak transcription	Fetal Stomach	stomach
19	chr5:15507000-15513400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:15508600-15512000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:15509200-15511600	Enhancers	HSMMtube	muscle
22	chr5:15509200-15511600	Enhancers	NHLF	lung
23	chr5:15509200-15512400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:15509600-15511400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:15509600-15512000	Enhancers	Colon Smooth Muscle	Colon
26	chr5:15509600-15512000	Enhancers	NHDF-Ad	bronchial
27	chr5:15509600-15512400	Enhancers	Brain Anterior Caudate	brain
28	chr5:15509800-15511400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:15509800-15511600	Enhancers	Fetal Muscle Leg	muscle
30	chr5:15509800-15511600	Enhancers	Ovary	ovary
31	chr5:15509800-15512000	Enhancers	Brain Hippocampus Middle	brain
32	chr5:15510200-15511800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:15510200-15512200	Enhancers	HSMM	muscle
34	chr5:15510200-15512200	Enhancers	HUVEC	blood vessel
35	chr5:15510400-15511600	Enhancers	NH-A	brain
36	chr5:15510400-15514600	Enhancers	Dnd41	blood
37	chr5:15510600-15511400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:15510600-15511400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:15510600-15511800	Enhancers	Adipose Nuclei	Adipose
40	chr5:15510800-15511600	Enhancers	Left Ventricle	heart
41	chr5:15511000-15511600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr5:15511000-15511600	Enhancers	Fetal Lung	lung
43	chr5:15511000-15511600	Enhancers	Right Atrium	heart
44	chr5:15511200-15511400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:15511200-15511400	Flanking Active TSS	Osteobl	bone
46	chr5:15511200-15511600	Enhancers	Liver	Liver
47	chr5:15511200-15512000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:15511200-15512200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:15511200-15512200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:15511200-15513600	Weak transcription	Fetal Kidney	kidney

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