Variant report

Variant	rs9312896
Chromosome Location	chr5:15588669-15588670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10065073	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10085170	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10475067	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12516651	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4144522	0.80[EUR][1000 genomes]
rs6861983	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6862606	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6879834	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6889573	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7706439	0.95[ASN][1000 genomes]
rs7732619	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9312891	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9312892	0.82[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15574000-15594200	Weak transcription	Fetal Kidney	kidney
2	chr5:15578200-15590200	Weak transcription	Right Ventricle	heart
3	chr5:15578200-15596200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:15578200-15600200	Weak transcription	Left Ventricle	heart
5	chr5:15581000-15604400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:15581600-15603400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:15584000-15599200	Weak transcription	HSMMtube	muscle
8	chr5:15585000-15594600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:15585000-15604000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:15585000-15606400	Weak transcription	Adipose Nuclei	Adipose
11	chr5:15585000-15630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:15585200-15594200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:15585200-15594400	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:15585200-15600000	Weak transcription	HSMM	muscle
15	chr5:15585200-15601000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:15585200-15602000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:15585200-15605200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:15585800-15594600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:15586000-15619800	Weak transcription	NHLF	lung
20	chr5:15586400-15598800	Weak transcription	Aorta	Aorta
21	chr5:15586600-15588800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:15586800-15592800	Weak transcription	Fetal Lung	lung
23	chr5:15587400-15592400	Weak transcription	Fetal Stomach	stomach
24	chr5:15587400-15596600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:15587400-15600200	Weak transcription	Lung	lung
26	chr5:15587600-15588800	Weak transcription	Fetal Heart	heart
27	chr5:15587600-15590000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:15587800-15601000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:15587800-15601000	Weak transcription	Brain Anterior Caudate	brain
30	chr5:15588200-15590000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:15588200-15592400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:15588200-15598200	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:15588200-15598800	Weak transcription	Brain Substantia Nigra	brain
34	chr5:15588200-15605400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:15588400-15592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:15588400-15592200	Weak transcription	Ovary	ovary
37	chr5:15588400-15600400	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:15588400-15612600	Weak transcription	NHDF-Ad	bronchial

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