Variant report

Variant	rs72992377
Chromosome Location	chr2:134311512-134311513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1017366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891880	1.00[EUR][1000 genomes]
rs11903204	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16826050	0.81[EUR][1000 genomes]
rs16826052	0.81[EUR][1000 genomes]
rs60316439	0.81[EUR][1000 genomes]
rs61578634	0.81[EUR][1000 genomes]
rs6720995	0.81[EUR][1000 genomes]
rs6730679	0.81[EUR][1000 genomes]
rs6732077	0.81[EUR][1000 genomes]
rs72990470	0.81[EUR][1000 genomes]
rs72990471	0.81[EUR][1000 genomes]
rs72990476	0.81[EUR][1000 genomes]
rs72990483	0.81[EUR][1000 genomes]
rs72990486	0.81[EUR][1000 genomes]
rs72990490	0.81[EUR][1000 genomes]
rs72990493	0.81[EUR][1000 genomes]
rs72990494	0.81[EUR][1000 genomes]
rs72992306	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992325	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992326	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72992334	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992339	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992347	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992351	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003136	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73003138	0.81[EUR][1000 genomes]
rs73003141	0.81[EUR][1000 genomes]
rs73003144	0.81[EUR][1000 genomes]
rs73003146	0.81[EUR][1000 genomes]
rs73003147	0.81[EUR][1000 genomes]
rs7340446	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7340510	0.81[EUR][1000 genomes]
rs9917399	0.81[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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2830192	chr2:134259612-134311713	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134286200-134311600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:134290800-134324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:134303800-134315800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:134310000-134313200	Weak transcription	Psoas Muscle	Psoas
5	chr2:134310400-134312000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:134310400-134315000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:134310400-134324000	Weak transcription	NHEK	skin
8	chr2:134310800-134311600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:134310800-134313000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:134310800-134314800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:134311000-134315200	Weak transcription	Fetal Heart	heart
12	chr2:134311200-134312000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:134311200-134314800	Weak transcription	NHDF-Ad	bronchial
14	chr2:134311200-134323000	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:134311400-134312600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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