Variant report

Variant	rs11048441
Chromosome Location	chr12:26421169-26421170
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]
rs1355734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1463583	0.94[ASN][1000 genomes]
rs1480031	0.94[ASN][1000 genomes]
rs1480038	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1480040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs1480044	0.81[EUR][1000 genomes]
rs1480045	0.81[EUR][1000 genomes]
rs1533249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913234	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2343875	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4963659	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6487545	0.82[ASN][1000 genomes]
rs7295825	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753616	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7956017	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7963516	1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs7976541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv983496	chr12:26407082-26428038	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26416800-26424200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:26418600-26421400	Weak transcription	Small Intestine	intestine
3	chr12:26419000-26421400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:26419200-26421400	Weak transcription	Stomach Mucosa	stomach
5	chr12:26420400-26423800	Weak transcription	HMEC	breast
6	chr12:26420400-26423800	Weak transcription	NHEK	skin
7	chr12:26420400-26424000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:26420400-26424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:26420400-26424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:26421000-26421800	Enhancers	Adipose Nuclei	Adipose
11	chr12:26421000-26423600	Enhancers	Fetal Intestine Large	intestine
12	chr12:26421000-26429000	Enhancers	Fetal Intestine Small	intestine

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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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