Variant report

Variant	rs378864
Chromosome Location	chr5:63296077-63296078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10042486	0.86[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10062933	0.81[EUR][1000 genomes]
rs1423691	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2934803	0.87[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs358528	0.82[EUR][1000 genomes]
rs421321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs428731	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6295	0.85[EUR][1000 genomes]
rs6449693	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6878612	0.86[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7448318	0.85[ASN][1000 genomes]
rs749099	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7715837	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs878567	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs970453	0.84[EUR][1000 genomes];0.84[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	nsv598351	chr5:63124140-63751144	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv965511	chr5:63288615-63298066	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs378864	RNF180	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:63295000-63297800	Enhancers	Brain Substantia Nigra	brain
2	chr5:63295200-63296800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr5:63295400-63296800	Enhancers	Brain Cingulate Gyrus	brain
4	chr5:63295400-63297000	Enhancers	Brain Hippocampus Middle	brain
5	chr5:63295600-63296400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr5:63295600-63296600	Enhancers	Brain Angular Gyrus	brain
7	chr5:63295600-63296800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:63295600-63296800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:63295600-63297000	Enhancers	Skeletal Muscle Female	skeletal muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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