Variant report

Variant	rs11182354
Chromosome Location	chr12:44361712-44361713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11182332	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs11182348	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182349	1.00[YRI][hapmap]
rs11182353	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182355	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182359	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371940	0.87[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17093971	0.88[CEU][hapmap]
rs4251480	1.00[YRI][hapmap]
rs4251550	1.00[YRI][hapmap]
rs73085705	0.81[AMR][1000 genomes]
rs7308588	0.88[CEU][hapmap]
rs73089764	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73096898	1.00[ASN][1000 genomes]
rs73100979	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7350559	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7976722	0.87[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44342000-44367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:44343600-44363400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:44343600-44376800	Weak transcription	Pancreas	Pancrea
4	chr12:44346200-44363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44352000-44363400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:44354400-44367000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:44356200-44368000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:44358800-44367800	Weak transcription	Esophagus	oesophagus
9	chr12:44359400-44363400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:44359600-44363400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:44359800-44362400	Weak transcription	Fetal Stomach	stomach
12	chr12:44360000-44363400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:44360000-44363400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:44360000-44366200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:44360200-44363400	Weak transcription	Osteobl	bone
16	chr12:44361000-44363800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:44361400-44401400	Weak transcription	Aorta	Aorta

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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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