Variant report

Variant	rs72954118
Chromosome Location	chr2:100861397-100861398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17023562	1.00[AMR][1000 genomes]
rs56362925	1.00[AMR][1000 genomes]
rs72954116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73966444	1.00[AMR][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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100855200-100865600	Weak transcription	Thymus	Thymus
2	chr2:100856600-100862800	Weak transcription	Fetal Brain Male	brain
3	chr2:100857200-100862800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100858000-100862800	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:100858400-100867800	Enhancers	Primary B cells from cord blood	blood
6	chr2:100858600-100863000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:100859400-100861600	Weak transcription	Osteobl	bone
8	chr2:100859400-100863000	Weak transcription	Right Ventricle	heart
9	chr2:100859400-100863600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:100859800-100862400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:100859800-100862400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:100859800-100864000	Weak transcription	Fetal Thymus	thymus
13	chr2:100859800-100869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:100860000-100862800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:100860400-100862800	Weak transcription	Fetal Lung	lung
16	chr2:100860800-100862600	Weak transcription	Placenta	Placenta
17	chr2:100861200-100862800	ZNF genes & repeats	GM12878-XiMat	blood
18	chr2:100861200-100863000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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