Variant report

Variant	rs12651626
Chromosome Location	chr4:28231399-28231400
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10020139	0.89[EUR][1000 genomes]
rs10212872	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1032595	0.89[EUR][1000 genomes]
rs12500090	0.89[EUR][1000 genomes]
rs12503152	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12640748	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12646224	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1353651	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1497692	0.89[EUR][1000 genomes]
rs1497718	0.95[EUR][1000 genomes]
rs2173280	0.89[EUR][1000 genomes]
rs28374480	0.83[EUR][1000 genomes]
rs4692292	0.88[EUR][1000 genomes]
rs4692293	0.95[EUR][1000 genomes]
rs4692299	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60495233	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221811	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7659324	0.95[EUR][1000 genomes]
rs9998286	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002855	chr4:28141588-28240495	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878774	chr4:28153349-28254938	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1005382	chr4:28157180-28403800	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv878775	chr4:28163856-28473048	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1000514	chr4:28192982-28445194	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv878776	chr4:28208093-28267024	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv878777	chr4:28208093-28343903	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28229000-28231400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:28229000-28234800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:28229400-28231800	Enhancers	HMEC	breast
4	chr4:28230000-28231800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:28230200-28231800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:28230400-28231400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:28230400-28231600	Enhancers	NHEK	skin
8	chr4:28230400-28232000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:28230600-28231400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:28230600-28231400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:28230600-28231600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:28230800-28231400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:28230800-28231400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:28231200-28232000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:28231200-28233000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:28231200-28235600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:28231200-28240600	Weak transcription	H1 BMP4 Derived Mesendoderm 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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