Variant report

Variant	rs12514780
Chromosome Location	chr5:107254739-107254740
allele	A/G
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]
rs10076055	0.96[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1036211	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11745018	0.94[CHB][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap]
rs12514763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12522338	0.89[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs12655932	1.00[LWK][hapmap]
rs12656092	0.95[CEU][hapmap];0.94[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12656140	1.00[LWK][hapmap]
rs1433054	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2195941	0.84[ASW][hapmap];0.80[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.85[AMR][1000 genomes]
rs62361076	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62361079	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72795963	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892007	0.96[CEU][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes]
rs919767	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[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	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12514780	FBXL17	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107248600-107258600	Weak transcription	Left Ventricle	heart
2	chr5:107251600-107261000	Weak transcription	Aorta	Aorta
3	chr5:107252600-107254800	Enhancers	Liver	Liver
4	chr5:107253200-107255000	Enhancers	NHDF-Ad	bronchial
5	chr5:107253200-107255400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:107253600-107254800	Enhancers	Osteobl	bone
7	chr5:107253800-107257000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:107254000-107255000	Weak transcription	Esophagus	oesophagus
9	chr5:107254000-107255200	Enhancers	Dnd41	blood
10	chr5:107254000-107258000	Weak transcription	Thymus	Thymus
11	chr5:107254000-107259000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:107254000-107262600	Weak transcription	Pancreas	Pancrea
13	chr5:107254200-107258200	Weak transcription	Primary T cells from cord blood	blood
14	chr5:107254400-107254800	Weak transcription	Fetal Brain Male	brain
15	chr5:107254600-107257400	Weak transcription	Fetal Thymus	thymus
16	chr5:107254600-107258400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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