Variant report

Variant	rs10748384
Chromosome Location	chr12:44359086-44359087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10748383	0.91[ASW][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785484	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs10785485	0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs10785486	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785487	0.88[AFR][1000 genomes]
rs7133994	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7296367	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7955667	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7979913	1.00[YRI][hapmap];0.97[AFR][1000 genomes];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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44342000-44367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:44343600-44359400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:44343600-44363400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:44343600-44376800	Weak transcription	Pancreas	Pancrea
5	chr12:44346200-44363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:44352000-44363400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:44354400-44367000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:44356200-44368000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:44356800-44359200	Weak transcription	Brain Angular Gyrus	brain
10	chr12:44357800-44359600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:44358400-44359400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:44358400-44359400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:44358800-44359400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:44358800-44359400	Enhancers	HepG2	liver
15	chr12:44358800-44359800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:44358800-44367800	Weak transcription	Esophagus	oesophagus
17	chr12:44359000-44359200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr12:44359000-44359400	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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