Variant report

Variant	rs62454571
Chromosome Location	chr7:13920619-13920620
allele	A/G
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:11)

rs_ID	r²[population]
rs17167627	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17167628	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17167657	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17167660	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62454572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62454579	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6956539	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6973055	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6974152	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7777533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7781901	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv606277	chr7:13907827-13967377	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13918800-13921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:13919000-13921400	Enhancers	Osteobl	bone
3	chr7:13919400-13921000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:13919400-13921000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:13919400-13921000	Enhancers	NH-A	brain
6	chr7:13919400-13921400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:13919400-13921400	Enhancers	HSMM	muscle
8	chr7:13919400-13921800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:13919600-13920800	Enhancers	NHLF	lung
10	chr7:13919800-13920800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:13919800-13921000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:13919800-13921000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:13919800-13921000	Enhancers	HSMMtube	muscle
14	chr7:13920400-13920800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:13920400-13921400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:13920400-13921800	Enhancers	HMEC	breast
17	chr7:13920600-13921000	Enhancers	NHEK	skin
18	chr7:13920600-13921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:13920600-13943000	Weak transcription	NHDF-Ad	bronchial
20	chr7:13920600-13945600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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