Variant report

Variant	rs2940518
Chromosome Location	chr5:108006405-108006406
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10063928	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12719098	0.81[EUR][1000 genomes]
rs13169679	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13169987	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1355079	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940517	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34825344	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35710353	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6898473	1.00[YRI][hapmap]
rs7707525	0.86[EUR][1000 genomes]
rs869287	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326743	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1024076	chr5:107991426-108028223	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1034158	chr5:107995509-108018395	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv523619	chr5:107999505-108016782	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108006200-108007000	Enhancers	Brain Substantia Nigra	brain
2	chr5:108006200-108007200	Enhancers	Fetal Heart	heart
3	chr5:108006200-108007400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:108006200-108007400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:108006200-108007400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:108006200-108007400	Enhancers	Brain Angular Gyrus	brain
7	chr5:108006400-108006600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:108006400-108006600	Enhancers	Pancreas	Pancrea
9	chr5:108006400-108006800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:108006400-108006800	Enhancers	Lung	lung
11	chr5:108006400-108007000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:108006400-108007000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:108006400-108007000	Enhancers	Fetal Lung	lung
14	chr5:108006400-108007000	Enhancers	Left Ventricle	heart
15	chr5:108006400-108007000	Enhancers	Right Atrium	heart
16	chr5:108006400-108007200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:108006400-108007200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:108006400-108007200	Enhancers	HepG2	liver
19	chr5:108006400-108007200	Enhancers	HMEC	breast
20	chr5:108006400-108007400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:108006400-108007600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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