Variant report

Variant	rs12277508
Chromosome Location	chr11:108647040-108647041
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12274006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285879	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294159	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34043774	0.82[AFR][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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108605800-108663800	Weak transcription	K562	blood
2	chr11:108615600-108657000	Weak transcription	Primary B cells from cord blood	blood
3	chr11:108627800-108659400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:108629000-108661800	Weak transcription	Left Ventricle	heart
5	chr11:108629600-108648600	Weak transcription	Fetal Lung	lung
6	chr11:108629800-108657200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:108642600-108650600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:108643400-108650400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr11:108644400-108675400	Weak transcription	Primary T cells from cord blood	blood
10	chr11:108645600-108659000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:108645800-108647400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:108646200-108657200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:108646800-108647800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:108647000-108647200	Enhancers	Fetal Muscle Leg	muscle

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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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