Variant report

Variant	rs72942380
Chromosome Location	chr18:8844722-8844723
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8809170..8811583-chr18:8844626..8847897,3	K562	blood:
2	chr18:8836082..8838682-chr18:8841919..8844783,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168502	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72936991	1.00[AMR][1000 genomes]
rs72942780	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8839600-8844800	Weak transcription	Fetal Brain Male	brain
2	chr18:8839600-8845000	Weak transcription	Fetal Brain Female	brain
3	chr18:8841200-8845800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr18:8841800-8845400	Enhancers	NHEK	skin
5	chr18:8841800-8847200	Weak transcription	Right Atrium	heart
6	chr18:8842000-8845600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:8842400-8847000	Weak transcription	NH-A	brain
8	chr18:8842400-8847200	Weak transcription	Osteobl	bone
9	chr18:8843200-8846600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr18:8843200-8847200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:8843200-8849800	Weak transcription	NHLF	lung
12	chr18:8843400-8845000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:8844000-8846600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr18:8844200-8845200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:8844200-8845200	Enhancers	Left Ventricle	heart
16	chr18:8844400-8845200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr18:8844600-8844800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:8844600-8844800	Enhancers	Placenta	Placenta
19	chr18:8844600-8845000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:8844600-8845200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:8844600-8845200	Enhancers	Right Ventricle	heart
22	chr18:8844600-8845400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr18:8844600-8845400	Enhancers	HMEC	breast

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