Variant report

Variant	rs3776569
Chromosome Location	chr5:36639458-36639459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11954014	0.90[JPT][hapmap]
rs11957945	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12518875	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12659371	0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs13166160	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1366632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2033267	0.84[ASN][1000 genomes]
rs2115522	0.82[ASN][1000 genomes]
rs34789636	0.83[ASN][1000 genomes]
rs366597	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4869486	0.84[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4869677	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
2	chr5:36616800-36651200	Weak transcription	Psoas Muscle	Psoas
3	chr5:36628600-36641000	Weak transcription	Fetal Brain Male	brain
4	chr5:36630600-36641400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:36630800-36646200	Weak transcription	NHDF-Ad	bronchial
6	chr5:36631000-36654400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:36631400-36641000	Weak transcription	Osteobl	bone
8	chr5:36631800-36641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:36632200-36654800	Weak transcription	Fetal Brain Female	brain
10	chr5:36632600-36641200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:36632600-36651800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:36632600-36654600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:36633400-36640200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:36633800-36639600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:36634000-36652200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:36635400-36639600	Strong transcription	Adipose Nuclei	Adipose
17	chr5:36635400-36640000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:36635600-36654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:36635800-36652200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:36637200-36640600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:36637200-36646400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:36637200-36655200	Weak transcription	Hela-S3	cervix
23	chr5:36637400-36646600	Weak transcription	Brain Angular Gyrus	brain
24	chr5:36637400-36654600	Weak transcription	Left Ventricle	heart
25	chr5:36637800-36648400	Enhancers	Fetal Heart	heart
26	chr5:36638000-36640200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:36638400-36640000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:36638400-36644800	Weak transcription	Right Ventricle	heart
29	chr5:36638600-36639800	Strong transcription	HSMM	muscle
30	chr5:36638600-36640000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:36638600-36646600	Weak transcription	Brain Substantia Nigra	brain
32	chr5:36638600-36652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:36638600-36652200	Weak transcription	NHEK	skin
34	chr5:36638600-36654600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:36638800-36639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:36638800-36640400	Strong transcription	Fetal Muscle Leg	muscle
37	chr5:36638800-36640800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:36638800-36641400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:36638800-36644800	Weak transcription	HSMMtube	muscle
40	chr5:36638800-36646600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:36638800-36646600	Weak transcription	Placenta	Placenta
42	chr5:36638800-36654400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:36639000-36645400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:36639200-36639800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:36639200-36639800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:36639200-36646600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:36639400-36646400	Weak transcription	Brain Anterior Caudate	brain
48	chr5:36639400-36650200	Weak transcription	Brain Hippocampus Middle	brain

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