Variant report

Variant	rs62347912
Chromosome Location	chr5:15600138-15600139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1025327	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10520819	0.95[ASN][1000 genomes]
rs1127792	0.86[ASN][1000 genomes]
rs12520060	0.88[ASN][1000 genomes]
rs16867529	0.89[ASN][1000 genomes]
rs1864220	0.87[ASN][1000 genomes]
rs4627983	0.82[ASN][1000 genomes]
rs59221558	0.80[ASN][1000 genomes]
rs62347909	0.93[ASN][1000 genomes]
rs62347910	0.93[ASN][1000 genomes]
rs62347911	0.93[ASN][1000 genomes]
rs62347915	0.97[ASN][1000 genomes]
rs62347936	0.81[ASN][1000 genomes]
rs6870504	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv830214	chr5:15589809-15791032	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3507774	chr5:15593461-15822407	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3507776	chr5:15593461-15822407	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv4732	chr5:15598325-15636520	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15578200-15600200	Weak transcription	Left Ventricle	heart
2	chr5:15581000-15604400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:15581600-15603400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:15585000-15604000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:15585000-15606400	Weak transcription	Adipose Nuclei	Adipose
6	chr5:15585000-15630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:15585200-15601000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:15585200-15602000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:15585200-15605200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:15586000-15619800	Weak transcription	NHLF	lung
11	chr5:15587400-15600200	Weak transcription	Lung	lung
12	chr5:15587800-15601000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:15587800-15601000	Weak transcription	Brain Anterior Caudate	brain
14	chr5:15588200-15605400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:15588400-15600400	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:15588400-15612600	Weak transcription	NHDF-Ad	bronchial
17	chr5:15588800-15603600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:15590800-15605000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:15593400-15606000	Weak transcription	HUVEC	blood vessel
20	chr5:15593400-15633400	Weak transcription	Fetal Lung	lung
21	chr5:15593600-15606200	Weak transcription	Fetal Brain Male	brain
22	chr5:15593600-15606400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:15593800-15601000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:15594800-15605000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:15595000-15601400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:15595200-15600200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:15595200-15607800	Weak transcription	Fetal Kidney	kidney
28	chr5:15595800-15600800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:15595800-15601000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:15596200-15601600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:15597400-15600600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:15597400-15600800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:15597400-15600800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:15597400-15604800	Weak transcription	Ovary	ovary
35	chr5:15597400-15605000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:15598000-15600200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:15598000-15601000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:15598000-15601400	Enhancers	Fetal Heart	heart
39	chr5:15599000-15601000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:15599200-15601200	Weak transcription	Brain Substantia Nigra	brain
41	chr5:15599200-15602000	Enhancers	HSMMtube	muscle
42	chr5:15599600-15600200	Enhancers	Aorta	Aorta
43	chr5:15600000-15600200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:15600000-15601200	Enhancers	Fetal Muscle Leg	muscle
45	chr5:15600000-15601600	Enhancers	Fetal Stomach	stomach
46	chr5:15600000-15601800	Enhancers	HSMM	muscle

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