Variant report

Variant	rs11680457
Chromosome Location	chr2:37016156-37016157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10167853	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184754	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11685689	1.00[ASN][1000 genomes]
rs11690186	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691704	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs11888678	1.00[ASN][1000 genomes]
rs11888749	0.82[AMR][1000 genomes]
rs13423549	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427011	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28534997	1.00[ASN][1000 genomes]
rs28535910	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1821275	chr2:36991736-37018278	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv2682	chr2:37015550-37060432	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	3 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	chr2:37009800-37016200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:37010000-37021600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:37012400-37016400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:37012800-37016200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:37012800-37016200	Weak transcription	Fetal Thymus	thymus
6	chr2:37012800-37024800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:37013000-37016200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:37013000-37016200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:37013000-37033000	Weak transcription	Ovary	ovary
10	chr2:37013200-37024400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:37013400-37016200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:37014400-37016800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:37016000-37016200	Enhancers	Brain Anterior Caudate	brain
14	chr2:37016000-37017200	Enhancers	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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