Variant report

Variant	rs28590233
Chromosome Location	chr4:106011086-106011087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10000800	0.98[EUR][1000 genomes]
rs11947243	0.99[EUR][1000 genomes]
rs17035270	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17429654	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2107054	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28622070	0.92[EUR][1000 genomes]
rs28758290	0.98[EUR][1000 genomes]
rs57328508	0.98[EUR][1000 genomes]
rs6533178	0.87[ASN][1000 genomes]
rs66758084	0.84[EUR][1000 genomes]
rs67149069	0.84[EUR][1000 genomes]
rs72665903	0.99[EUR][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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830024	chr4:105884350-106037816	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr4:106008400-106011200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:106008400-106011200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr4:106009800-106013400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:106010000-106014000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:106010200-106013400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:106010200-106013400	Weak transcription	HMEC	breast
7	chr4:106010200-106013400	Weak transcription	NH-A	brain
8	chr4:106010200-106013800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:106010400-106013400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:106010400-106013400	Weak transcription	NHDF-Ad	bronchial
11	chr4:106010400-106013400	Weak transcription	Osteobl	bone
12	chr4:106010400-106014000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:106010600-106013000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:106010600-106013400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:106010800-106013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:106011000-106013400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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