Variant report

Variant	rs3762978
Chromosome Location	chr5:15602061-15602062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12055284	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1429034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17647484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17647490	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17704046	1.00[EUR][1000 genomes]
rs2059900	0.94[ASN][1000 genomes]
rs2964265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2964271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3097352	0.87[ASN][1000 genomes]
rs3097353	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4558990	1.00[EUR][1000 genomes]
rs57447423	1.00[EUR][1000 genomes]
rs6554889	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs891196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15581000-15604400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:15581600-15603400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:15585000-15604000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:15585000-15606400	Weak transcription	Adipose Nuclei	Adipose
5	chr5:15585000-15630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:15585200-15605200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:15586000-15619800	Weak transcription	NHLF	lung
8	chr5:15588200-15605400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:15588400-15612600	Weak transcription	NHDF-Ad	bronchial
10	chr5:15588800-15603600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:15590800-15605000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:15593400-15606000	Weak transcription	HUVEC	blood vessel
13	chr5:15593400-15633400	Weak transcription	Fetal Lung	lung
14	chr5:15593600-15606200	Weak transcription	Fetal Brain Male	brain
15	chr5:15593600-15606400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:15594800-15605000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:15595200-15607800	Weak transcription	Fetal Kidney	kidney
18	chr5:15597400-15604800	Weak transcription	Ovary	ovary
19	chr5:15597400-15605000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:15600200-15605000	Weak transcription	Aorta	Aorta
21	chr5:15600600-15602200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:15600600-15605000	Weak transcription	Left Ventricle	heart
23	chr5:15600600-15645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:15600800-15602400	Enhancers	Brain Angular Gyrus	brain
25	chr5:15600800-15603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:15601000-15602400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:15601000-15602400	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:15601000-15602600	Enhancers	Brain Anterior Caudate	brain
29	chr5:15601200-15602400	Enhancers	Brain Substantia Nigra	brain
30	chr5:15601400-15602800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:15601400-15605000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:15601600-15602400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr5:15601600-15603200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:15601800-15602600	Strong transcription	Fetal Stomach	stomach
35	chr5:15601800-15604800	Weak transcription	HSMM	muscle
36	chr5:15601800-15606400	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:15601800-15609400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:15601800-15610000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:15602000-15602200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:15602000-15602600	Enhancers	Brain Hippocampus Middle	brain
41	chr5:15602000-15602800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:15602000-15604800	Weak transcription	HSMMtube	muscle
43	chr5:15602000-15606200	Weak transcription	Fetal Heart	heart

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