Variant report

Variant	rs1951494
Chromosome Location	chr14:65337684-65337685
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1547087	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1957437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2828	0.81[ASN][1000 genomes]
rs67357087	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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	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
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1951494	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs1951494	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs1951494	CHURC1	cis	Whole Blood	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65331800-65342400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr14:65334200-65340800	Weak transcription	Fetal Heart	heart
3	chr14:65334200-65342000	Weak transcription	Right Atrium	heart
4	chr14:65335600-65344600	Weak transcription	Right Ventricle	heart
5	chr14:65336200-65337800	Enhancers	Psoas Muscle	Psoas
6	chr14:65336600-65337800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:65337000-65338000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:65337400-65338400	Enhancers	K562	blood

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

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