Variant report

Variant	rs11069050
Chromosome Location	chr12:119128554-119128555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10851006	0.94[ASN][1000 genomes]
rs11069011	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11610340	0.85[JPT][hapmap]
rs11614043	0.93[ASN][1000 genomes]
rs11614956	0.96[ASN][1000 genomes]
rs1402339	0.86[ASN][1000 genomes]
rs1402340	0.86[ASN][1000 genomes]
rs1818055	0.85[ASN][1000 genomes]
rs1818729	0.85[AMR][1000 genomes]
rs1851093	0.85[JPT][hapmap]
rs2203993	0.86[ASN][1000 genomes]
rs2248364	0.85[ASN][1000 genomes]
rs2248365	0.85[ASN][1000 genomes]
rs7301920	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1039515	chr12:119085196-119218918	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045363	chr12:119091734-119219659	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv519756	chr12:119092357-119227242	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119118400-119131200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:119123400-119131600	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:119125400-119131800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:119126600-119128600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:119127800-119128800	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:119128000-119129000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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