Variant report

Variant	rs1667658
Chromosome Location	chr14:43399220-43399221
allele	A/C
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:3)

rs_ID	r²[population]
rs1470658	0.88[EUR][1000 genomes]
rs1667659	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1667661	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564618	chr14:43056649-43773651	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv901755	chr14:43083557-43460115	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430996	chr14:43140250-43829050	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1048877	chr14:43167329-43863100	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1050125	chr14:43277389-43400554	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv542062	chr14:43277389-43400554	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1042123	chr14:43304149-43460863	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv542063	chr14:43304149-43460863	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv832780	chr14:43310670-43496959	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv901759	chr14:43317669-43512251	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv901762	chr14:43324206-43422908	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv901763	chr14:43324206-43450454	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1049409	chr14:43342305-43978776	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv2761831	chr14:43359182-43409296	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv527004	chr14:43392107-43555789	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr14:43398200-43399800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:43399000-43399600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr14:43399000-43399800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr14:43399000-43399800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:43399200-43399400	Enhancers	Fetal Kidney	kidney
6	chr14:43399200-43399600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:43399200-43399600	Active TSS	Adipose Nuclei	Adipose
8	chr14:43399200-43399600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr14:43399200-43399600	Enhancers	Spleen	Spleen
10	chr14:43399200-43399800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:43399200-43399800	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:43399200-43399800	Enhancers	Pancreas	Pancrea

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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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