Variant report

Variant	rs17093833
Chromosome Location	chr12:44277006-44277007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10748381	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs10785488	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs11182303	1.00[YRI][hapmap]
rs12229940	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1320918	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17093848	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17093850	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1819128	1.00[AMR][1000 genomes]
rs6582491	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs7133980	1.00[AMR][1000 genomes]
rs7301628	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs7302694	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971156	1.00[AMR][1000 genomes]
rs7976155	1.00[AMR][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	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
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44263800-44277600	Weak transcription	Left Ventricle	heart
4	chr12:44273800-44278400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44274400-44277200	Weak transcription	HSMM	muscle
6	chr12:44274600-44278600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:44274600-44286000	Weak transcription	Pancreas	Pancrea
8	chr12:44275000-44278400	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:44275000-44281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:44275200-44277800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:44276600-44278600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr12:44276800-44278400	Weak transcription	Brain Anterior Caudate	brain
13	chr12:44276800-44278600	Enhancers	Osteobl	bone
14	chr12:44277000-44277400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:44277000-44278600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:44277000-44279600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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