Variant report

Variant	rs17093747
Chromosome Location	chr12:44205459-44205460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11832281	0.90[AMR][1000 genomes]
rs12298711	0.87[ASN][1000 genomes]
rs17093630	0.90[AMR][1000 genomes]
rs17093632	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17093732	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17093734	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17093754	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1731432	1.00[JPT][hapmap]
rs1802561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1870765	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2166063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2199390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3805199	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4251475	0.86[AMR][1000 genomes]
rs4251490	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs55973711	1.00[AFR][1000 genomes];0.90[AMR][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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44201000-44205800	Weak transcription	HMEC	breast
2	chr12:44201000-44207400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:44201200-44206200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44201400-44209400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:44202000-44217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:44204400-44205600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:44204600-44206000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:44205000-44206200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:44205200-44206000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:44205400-44206000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:44205400-44206000	Enhancers	NHEK	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