Variant report

Variant	rs435627
Chromosome Location	chr14:65305927-65305928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1033785	0.95[AFR][1000 genomes]
rs12437108	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1475101	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1535450	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1547087	0.82[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1570295	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs230702	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2828	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs396974	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs422574	1.00[YRI][hapmap];0.96[AFR][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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs435627	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs435627	CHURC1	cis	Whole Blood	GTEx
rs435627	C14orf52	cis	multi-tissue	Pritchard
rs435627	CHURC1	cis	Thyroid	GTEx
rs435627	RAB15	cis	Lymphoblastoid	GTEx
rs435627	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs435627	CHURC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65296400-65308600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr14:65298000-65306800	Weak transcription	Right Atrium	heart
3	chr14:65298400-65309800	Weak transcription	Right Ventricle	heart
4	chr14:65303600-65308200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:65304000-65306000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:65304000-65307000	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:65304800-65307200	Enhancers	K562	blood
8	chr14:65305400-65306400	Enhancers	Psoas Muscle	Psoas

Quick Search:

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

what's new

Quick links