Variant report

Variant	rs11848561
Chromosome Location	chr14:69269332-69269333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11846601	1.00[EUR][1000 genomes]
rs56944540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57487210	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs57544284	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs61025486	1.00[EUR][1000 genomes]
rs7141082	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73279154	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060189	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8011424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69263200-69273000	Weak transcription	Ovary	ovary
2	chr14:69263200-69273200	Weak transcription	HSMM	muscle
3	chr14:69263600-69273200	Weak transcription	NH-A	brain
4	chr14:69264000-69271600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:69264200-69273200	Weak transcription	Right Atrium	heart
6	chr14:69264200-69273600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:69264400-69272600	Weak transcription	HSMMtube	muscle
9	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:69264800-69272200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:69264800-69273200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:69268000-69273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:69268200-69269800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr14:69269000-69273200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:69269200-69269800	Enhancers	Lung	lung
16	chr14:69269200-69273400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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