Variant report

Variant	rs548869
Chromosome Location	chr4:74764395-74764396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1511814	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1814092	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1835263	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs187093	0.85[AMR][1000 genomes]
rs2018732	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2668075	0.85[AMR][1000 genomes]
rs2668077	0.85[AMR][1000 genomes]
rs3097408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3097410	0.94[AFR][1000 genomes]
rs352030	0.85[AMR][1000 genomes]
rs353030	0.85[AMR][1000 genomes]
rs353035	0.85[AMR][1000 genomes]
rs353037	0.85[AMR][1000 genomes]
rs375890	0.85[AMR][1000 genomes]
rs471520	0.85[AMR][1000 genomes]
rs480175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs506627	0.85[AMR][1000 genomes]
rs509958	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554409	0.85[AMR][1000 genomes]
rs565886	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs587895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs591026	0.97[AFR][1000 genomes]
rs592797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs649575	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72855209	0.85[AMR][1000 genomes]
rs930113	0.88[AFR][1000 genomes];1.00[AMR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74757200-74770400	Enhancers	NHDF-Ad	bronchial
2	chr4:74759200-74764600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:74759800-74770400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:74760200-74767000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:74761200-74766600	Weak transcription	K562	blood
6	chr4:74761200-74767400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:74761200-74768600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:74761800-74766800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:74763200-74767600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:74763400-74764400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:74763800-74766400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:74763800-74766600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:74763800-74767200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:74764000-74764400	Weak transcription	NHLF	lung
15	chr4:74764000-74765800	Weak transcription	Osteobl	bone
16	chr4:74764200-74766800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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

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