Variant report

Variant	rs7990125
Chromosome Location	chr13:39928032-39928033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12428000	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583159	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12585476	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17059611	0.80[ASN][1000 genomes]
rs17590635	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17628742	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17628771	0.82[EUR][1000 genomes]
rs2147130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181759	0.89[LWK][hapmap];0.90[YRI][hapmap]
rs2324252	0.80[ASN][1000 genomes]
rs4640054	0.81[AFR][1000 genomes]
rs56183908	0.81[AFR][1000 genomes]
rs57251095	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58501663	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60535758	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6563695	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6563698	0.81[JPT][hapmap]
rs7322148	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7332991	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs73451012	0.91[EUR][1000 genomes]
rs73451015	0.91[EUR][1000 genomes]
rs73467356	0.81[AFR][1000 genomes]
rs73467374	0.87[EUR][1000 genomes]
rs74044033	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs746077	0.80[ASN][1000 genomes]
rs746078	0.80[ASN][1000 genomes]
rs747382	0.80[ASN][1000 genomes]
rs7998423	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001763	0.81[AFR][1000 genomes]
rs912397	0.80[ASN][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3351259	chr13:39926252-39928150	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39925200-39928600	Weak transcription	Fetal Lung	lung
2	chr13:39925200-39936800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:39925200-39938600	Weak transcription	Aorta	Aorta
4	chr13:39925400-39929200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:39925600-39928800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:39926400-39929800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:39927800-39928400	Enhancers	NHEK	skin
8	chr13:39928000-39928200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:39928000-39928200	Genic enhancers	Left Ventricle	heart
10	chr13:39928000-39928400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:39928000-39928400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr13:39928000-39928400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:39928000-39928400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:39928000-39928400	Enhancers	Esophagus	oesophagus
15	chr13:39928000-39928400	Enhancers	Right Atrium	heart
16	chr13:39928000-39928400	Enhancers	Right Ventricle	heart
17	chr13:39928000-39928400	Enhancers	HMEC	breast
18	chr13:39928000-39928400	Enhancers	Osteobl	bone
19	chr13:39928000-39928600	Enhancers	Adipose Nuclei	Adipose
20	chr13:39928000-39928800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:39928000-39928800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:39928000-39928800	Enhancers	NHDF-Ad	bronchial
23	chr13:39928000-39929200	Enhancers	Fetal Heart	heart

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