Variant report

Variant	rs2649196
Chromosome Location	chr14:65303251-65303252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs114813	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs12587537	0.88[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs1273204	0.94[CEU][hapmap];0.85[CHB][hapmap];0.91[EUR][1000 genomes]
rs1695751	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs2016522	0.88[MEX][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs229609	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs229616	0.90[CHB][hapmap];0.91[EUR][1000 genomes]
rs229618	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs229619	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs229667	0.81[CEU][hapmap]
rs28495181	0.81[EUR][1000 genomes]
rs2936614	0.87[ASN][1000 genomes]
rs4027216	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs423927	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs438035	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902318	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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2649196	GPHB5	cis	cerebellum	SCAN
rs2649196	CHURC1	cis	Brain Pons	GTEx
rs2649196	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs2649196	CHURC1	cis	cerebellum	SCAN
rs2649196	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs2649196	VTI1B	cis	cerebellum	SCAN
rs2649196	CHURC1	cis	parietal	SCAN
rs2649196	CHURC1	cis	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65296400-65308600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr14:65297200-65304000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr14:65298000-65306800	Weak transcription	Right Atrium	heart
4	chr14:65298400-65309800	Weak transcription	Right Ventricle	heart
5	chr14:65300000-65304800	Weak transcription	K562	blood
6	chr14:65300600-65304000	Enhancers	Fetal Muscle Leg	muscle
7	chr14:65303000-65305400	Weak transcription	Psoas Muscle	Psoas

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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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