Variant report

Variant	rs11957945
Chromosome Location	chr5:36639016-36639017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11954014	0.86[ASN][1000 genomes]
rs12518875	0.96[ASN][1000 genomes]
rs13166160	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1366632	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs366597	0.83[AMR][1000 genomes]
rs3776569	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[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:49 , 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	chr5:36631200-36639200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:36631400-36641000	Weak transcription	Osteobl	bone
9	chr5:36631800-36641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:36632200-36654800	Weak transcription	Fetal Brain Female	brain
11	chr5:36632600-36639200	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:36632600-36641200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:36632600-36651800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:36632600-36654600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:36633400-36640200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:36633800-36639600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:36634000-36652200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:36635400-36639600	Strong transcription	Adipose Nuclei	Adipose
19	chr5:36635400-36640000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:36635600-36654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:36635800-36652200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:36636800-36639200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr5:36637200-36640600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:36637200-36646400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr5:36637200-36655200	Weak transcription	Hela-S3	cervix
26	chr5:36637400-36646600	Weak transcription	Brain Angular Gyrus	brain
27	chr5:36637400-36654600	Weak transcription	Left Ventricle	heart
28	chr5:36637800-36648400	Enhancers	Fetal Heart	heart
29	chr5:36638000-36640200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:36638200-36639400	Genic enhancers	Brain Anterior Caudate	brain
31	chr5:36638400-36639200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:36638400-36640000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:36638400-36644800	Weak transcription	Right Ventricle	heart
34	chr5:36638600-36639800	Strong transcription	HSMM	muscle
35	chr5:36638600-36640000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:36638600-36646600	Weak transcription	Brain Substantia Nigra	brain
37	chr5:36638600-36652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:36638600-36652200	Weak transcription	NHEK	skin
39	chr5:36638600-36654600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:36638800-36639200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:36638800-36639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:36638800-36640400	Strong transcription	Fetal Muscle Leg	muscle
43	chr5:36638800-36640800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:36638800-36641400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:36638800-36644800	Weak transcription	HSMMtube	muscle
46	chr5:36638800-36646600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:36638800-36646600	Weak transcription	Placenta	Placenta
48	chr5:36638800-36654400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:36639000-36645400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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