Variant report

Variant	rs11615511
Chromosome Location	chr12:105846256-105846257
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10861426	0.97[ASN][1000 genomes]
rs10861429	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112525	0.83[ASN][1000 genomes]
rs12817201	0.88[ASN][1000 genomes]
rs1347100	0.99[ASN][1000 genomes]
rs1816394	0.94[ASN][1000 genomes]
rs1816395	0.92[ASN][1000 genomes]
rs2163720	0.98[ASN][1000 genomes]
rs4015321	0.97[ASN][1000 genomes]
rs7135404	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7307345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970980	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045689	chr12:105836970-105879110	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105840000-105846400	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:105840400-105848600	Weak transcription	NHEK	skin
3	chr12:105840600-105848400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:105841600-105850400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:105844400-105847400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:105845400-105848400	Weak transcription	HUVEC	blood vessel
7	chr12:105845800-105846800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:105845800-105847200	Weak transcription	NH-A	brain
9	chr12:105845800-105850600	Weak transcription	HSMM	muscle
10	chr12:105845800-105850800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:105845800-105850800	Weak transcription	HSMMtube	muscle
12	chr12:105846000-105846400	Weak transcription	NHDF-Ad	bronchial
13	chr12:105846000-105850600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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