Variant report

Variant	rs1752040
Chromosome Location	chr13:30278052-30278053
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	chr13:30277466..30279182-chr13:30280230..30281959,2	MCF-7	breast:
2	chr13:30276744..30278789-chr13:30280944..30283697,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1010154	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12854213	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12870250	0.88[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12870927	0.88[CHB][hapmap];0.91[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467601	0.84[ASN][1000 genomes]
rs1590696	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17625129	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2078408	0.88[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs34053860	0.80[ASN][1000 genomes]
rs3858738	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4769767	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4769768	0.87[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769769	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6490421	0.94[ASN][1000 genomes]
rs6490422	0.88[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs6490423	0.95[ASN][1000 genomes]
rs6490424	0.95[ASN][1000 genomes]
rs7317991	0.95[ASN][1000 genomes]
rs7318002	0.95[ASN][1000 genomes]
rs7323986	0.81[ASN][1000 genomes]
rs7324910	0.82[ASN][1000 genomes]
rs7333892	0.95[ASN][1000 genomes]
rs7337296	0.80[CHB][hapmap];0.81[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7991022	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs9508530	0.94[ASN][1000 genomes]
rs9508532	0.96[ASN][1000 genomes]
rs9508533	0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9508534	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9508535	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9508536	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9508537	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508538	0.87[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508539	0.80[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs9508540	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9508541	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9550489	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9551721	0.85[ASN][1000 genomes]
rs9551722	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9579471	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9634355	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs997896	0.84[ASN][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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30276200-30279000	Enhancers	NHEK	skin
2	chr13:30276600-30278200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr13:30276600-30279400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:30276800-30279600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:30277000-30278400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:30277000-30279200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:30277000-30279600	Enhancers	Spleen	Spleen
8	chr13:30277200-30278800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:30277200-30278800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:30277200-30279200	Enhancers	Fetal Muscle Trunk	muscle
11	chr13:30277400-30278200	Enhancers	Esophagus	oesophagus
12	chr13:30277400-30278200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr13:30277400-30278800	Weak transcription	Right Ventricle	heart
14	chr13:30277400-30280600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:30277600-30278600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:30277600-30278600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:30277600-30278600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:30277600-30278800	Weak transcription	Left Ventricle	heart
19	chr13:30277600-30278800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:30277600-30279000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:30277600-30279400	Enhancers	Adipose Nuclei	Adipose
22	chr13:30277600-30280200	Enhancers	NHDF-Ad	bronchial
23	chr13:30277800-30278800	Weak transcription	Osteobl	bone
24	chr13:30277800-30279000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:30277800-30279000	Weak transcription	NHLF	lung
26	chr13:30277800-30280200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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