Variant report

Variant	rs749164
Chromosome Location	chr8:25488872-25488873
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11135877	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17054046	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17054065	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17054074	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4242422	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4428678	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4872335	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55958522	0.84[EUR][1000 genomes]
rs59698818	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7819772	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826516	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7831299	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890689	chr8:25124350-25719075	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs749164	NEFL	cis	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:25484800-25489400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:25487400-25489600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:25487600-25490000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:25488400-25489200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:25488400-25489200	Active TSS	Brain Hippocampus Middle	brain
6	chr8:25488400-25489400	Enhancers	Fetal Brain Male	brain
7	chr8:25488400-25489400	Enhancers	Fetal Heart	heart
8	chr8:25488400-25489600	Active TSS	Brain Anterior Caudate	brain
9	chr8:25488400-25489800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:25488400-25490000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:25488400-25490000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:25488400-25490000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:25488400-25490200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:25488400-25490200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:25488400-25490400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:25488600-25489000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr8:25488600-25489000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:25488600-25489000	Active TSS	Brain Substantia Nigra	brain
19	chr8:25488600-25489000	Active TSS	Fetal Muscle Leg	muscle
20	chr8:25488600-25489000	Active TSS	NHLF	lung
21	chr8:25488600-25489200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:25488600-25489200	Active TSS	Brain Germinal Matrix	brain
23	chr8:25488600-25489400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr8:25488600-25489400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:25488600-25489400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:25488600-25489400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr8:25488600-25489400	Active TSS	Aorta	Aorta
28	chr8:25488600-25489400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
29	chr8:25488600-25489400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:25488600-25489400	Active TSS	Right Atrium	heart
31	chr8:25488600-25489600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:25488600-25489600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:25488600-25489600	Enhancers	Fetal Stomach	stomach
34	chr8:25488800-25489000	Active TSS	Brain Cingulate Gyrus	brain
35	chr8:25488800-25489000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
36	chr8:25488800-25489000	Active TSS	Fetal Brain Female	brain
37	chr8:25488800-25489000	Active TSS	Osteobl	bone
38	chr8:25488800-25489200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr8:25488800-25489200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:25488800-25489200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:25488800-25489200	Active TSS	Fetal Lung	lung
42	chr8:25488800-25489200	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr8:25488800-25489200	Active TSS	Left Ventricle	heart
44	chr8:25488800-25489200	Active TSS	Right Ventricle	heart
45	chr8:25488800-25489200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
46	chr8:25488800-25489200	Active TSS	NHDF-Ad	bronchial
47	chr8:25488800-25489400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:25488800-25489400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:25488800-25489400	Active TSS	NH-A	brain
50	chr8:25488800-25489600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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