Variant report

Variant	rs4899147
Chromosome Location	chr14:65295954-65295955
allele	G/T
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:5)

rs_ID	r²[population]
rs10136659	1.00[JPT][hapmap]
rs11158561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12587480	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4899149	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902330	1.00[CHB][hapmap];1.00[JPT][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4899147	CHURC1	cis	multi-tissue	Pritchard
rs4899147	CHURC1	cis	lymphoblastoid	seeQTL
rs4899147	CHURC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65291600-65296000	Enhancers	K562	blood
2	chr14:65292000-65297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:65292600-65297800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:65293600-65297400	Weak transcription	Fetal Heart	heart
5	chr14:65294000-65297800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr14:65294800-65296200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr14:65294800-65297600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr14:65294800-65297800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:65295000-65296000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr14:65295200-65296600	Weak transcription	Psoas Muscle	Psoas
11	chr14:65295200-65297400	Weak transcription	Left Ventricle	heart
12	chr14:65295200-65297400	Weak transcription	Right Atrium	heart
13	chr14:65295200-65297400	Weak transcription	Right Ventricle	heart
14	chr14:65295600-65296600	Weak transcription	Fetal Muscle Leg	muscle

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