Variant report

Variant	rs2402165
Chromosome Location	chr5:15583757-15583758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10520817	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10520818	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2435069	0.85[ASN][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15555800-15584200	Weak transcription	HSMM	muscle
2	chr5:15572000-15583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:15573000-15583800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:15574000-15594200	Weak transcription	Fetal Kidney	kidney
5	chr5:15576000-15584200	Weak transcription	Adipose Nuclei	Adipose
6	chr5:15576000-15584800	Weak transcription	NHLF	lung
7	chr5:15576000-15585200	Weak transcription	NHDF-Ad	bronchial
8	chr5:15576200-15588000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:15577600-15584800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:15578000-15585200	Weak transcription	Osteobl	bone
11	chr5:15578200-15590200	Weak transcription	Right Ventricle	heart
12	chr5:15578200-15596200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:15578200-15600200	Weak transcription	Left Ventricle	heart
14	chr5:15578400-15584200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:15578600-15583800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:15578800-15584600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:15579600-15584200	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:15580000-15586000	Weak transcription	Brain Substantia Nigra	brain
19	chr5:15580200-15584600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:15580200-15586000	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:15581000-15584600	Weak transcription	Fetal Heart	heart
22	chr5:15581000-15604400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:15581400-15583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:15581600-15585000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:15581600-15603400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:15582000-15583800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:15582000-15587200	Weak transcription	Ovary	ovary
28	chr5:15583200-15584800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:15583200-15585200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr5:15583200-15585200	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr5:15583400-15584200	ZNF genes & repeats	Dnd41	blood
32	chr5:15583400-15584400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:15583400-15584400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:15583400-15584600	Strong transcription	Fetal Lung	lung
35	chr5:15583400-15584600	ZNF genes & repeats	Fetal Stomach	stomach
36	chr5:15583400-15585200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr5:15583600-15584000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:15583600-15584000	Enhancers	HSMMtube	muscle
39	chr5:15583600-15584200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:15583600-15584200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:15583600-15584400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:15583600-15584400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:15583600-15584600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr5:15583600-15584800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:15583600-15585000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr5:15583600-15585200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr5:15583600-15585200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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