Variant report

Variant	rs9830588
Chromosome Location	chr3:160195290-160195291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160189211..160191457-chr3:160193439..160195639,2	K562	blood:
2	chr3:160193260..160196104-chr3:160198716..160201117,2	K562	blood:

Variant related genes	Relation type
ENSG00000238427	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28432047	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6809313	0.89[YRI][hapmap]
rs9814978	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9834276	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9872543	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
7	esv1801686	chr3:160089896-160248363	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	211 gene(s)	inside rSNPs	diseases
8	nsv965125	chr3:160195278-160198798	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160190600-160199600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:160192400-160195600	Weak transcription	HSMMtube	muscle
3	chr3:160192800-160195600	Weak transcription	HSMM	muscle
4	chr3:160193000-160195600	Weak transcription	NHLF	lung
5	chr3:160193400-160195400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:160193400-160195400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:160193400-160195600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:160193400-160213000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:160194200-160195600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:160194800-160197800	Enhancers	Osteobl	bone
11	chr3:160195000-160195800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:160195000-160196000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:160195200-160195600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:160195200-160195800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:160195200-160196000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:160195200-160196000	Enhancers	NHDF-Ad	bronchial
17	chr3:160195200-160196200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:160195200-160196200	Enhancers	NH-A	brain
19	chr3:160195200-160196400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:160195200-160196400	Enhancers	K562	blood
21	chr3:160195200-160197400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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