Variant report

Variant	rs2402166
Chromosome Location	chr5:15583600-15583601
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10037317	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13184823	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1366651	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1366653	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1429037	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1429039	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1429040	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1429041	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1835130	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1835131	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1835132	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1835133	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1978633	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402167	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4702084	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4702086	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6420022	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6554887	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6554888	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6895002	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7733607	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7734082	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9312893	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9312894	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs969351	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs972182	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs983889	0.88[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15555800-15584200	Weak transcription	HSMM	muscle
2	chr5:15572000-15583600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:15572000-15583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:15573000-15583800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:15573200-15583600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:15574000-15594200	Weak transcription	Fetal Kidney	kidney
7	chr5:15575600-15583600	Weak transcription	HSMMtube	muscle
8	chr5:15576000-15584200	Weak transcription	Adipose Nuclei	Adipose
9	chr5:15576000-15584800	Weak transcription	NHLF	lung
10	chr5:15576000-15585200	Weak transcription	NHDF-Ad	bronchial
11	chr5:15576200-15588000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:15577600-15584800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:15578000-15585200	Weak transcription	Osteobl	bone
14	chr5:15578200-15590200	Weak transcription	Right Ventricle	heart
15	chr5:15578200-15596200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:15578200-15600200	Weak transcription	Left Ventricle	heart
17	chr5:15578400-15584200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:15578600-15583800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:15578800-15584600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:15579600-15584200	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:15580000-15583600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:15580000-15586000	Weak transcription	Brain Substantia Nigra	brain
23	chr5:15580200-15583600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:15580200-15584600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:15580200-15586000	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:15581000-15584600	Weak transcription	Fetal Heart	heart
27	chr5:15581000-15604400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:15581400-15583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:15581600-15585000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:15581600-15603400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:15582000-15583800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:15582000-15587200	Weak transcription	Ovary	ovary
33	chr5:15582200-15583600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:15582600-15583600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:15582800-15583600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:15583200-15584800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:15583200-15585200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr5:15583200-15585200	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr5:15583400-15584200	ZNF genes & repeats	Dnd41	blood
40	chr5:15583400-15584400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:15583400-15584400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:15583400-15584600	Strong transcription	Fetal Lung	lung
43	chr5:15583400-15584600	ZNF genes & repeats	Fetal Stomach	stomach
44	chr5:15583400-15585200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr5:15583600-15584000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:15583600-15584000	Enhancers	HSMMtube	muscle
47	chr5:15583600-15584200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:15583600-15584200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:15583600-15584400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:15583600-15584400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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