Variant report

Variant	rs72735947
Chromosome Location	chr1:98471255-98471256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17117401	1.00[AFR][1000 genomes]
rs17117403	1.00[AFR][1000 genomes]
rs17117405	1.00[AFR][1000 genomes]
rs17117424	0.95[AFR][1000 genomes]
rs72735939	1.00[AFR][1000 genomes]
rs72735940	1.00[AFR][1000 genomes]
rs72735946	1.00[AFR][1000 genomes]
rs72735971	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv871230	chr1:98436232-98564736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv470729	chr1:98461443-98564736	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv546874	chr1:98461443-98564736	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 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	chr1:98463800-98499800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:98465200-98474000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:98466400-98475600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:98467600-98473000	Weak transcription	Fetal Brain Male	brain
5	chr1:98468200-98474000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:98469200-98471800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:98469200-98473400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:98469800-98472000	Enhancers	A549	lung
9	chr1:98470400-98471800	Enhancers	HUVEC	blood vessel
10	chr1:98470400-98476600	Enhancers	Osteobl	bone
11	chr1:98470600-98471600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:98470600-98471600	Enhancers	Hela-S3	cervix
13	chr1:98470600-98471600	Enhancers	NH-A	brain
14	chr1:98470600-98471600	Enhancers	NHEK	skin
15	chr1:98470600-98471800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:98470600-98471800	Enhancers	NHDF-Ad	bronchial
17	chr1:98470800-98471600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:98470800-98473000	Enhancers	NHLF	lung
19	chr1:98471000-98471400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:98471000-98471400	Weak transcription	HSMM	muscle
21	chr1:98471000-98471600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:98471200-98471600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:98471200-98471600	Enhancers	Placenta	Placenta

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