Variant report

Variant	rs73981116
Chromosome Location	chr2:188080424-188080425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16828590	0.91[AFR][1000 genomes]
rs16828669	0.96[AFR][1000 genomes]
rs4516390	0.83[AFR][1000 genomes]
rs4614897	0.94[AFR][1000 genomes]
rs56067996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58601170	0.90[AFR][1000 genomes]
rs6725883	0.96[AFR][1000 genomes]
rs6756559	0.91[AFR][1000 genomes]
rs73979609	0.91[AFR][1000 genomes]
rs73979611	0.91[AFR][1000 genomes]
rs73979619	0.91[AFR][1000 genomes]
rs73979643	0.91[AFR][1000 genomes]
rs73979678	0.96[AFR][1000 genomes]
rs73979692	0.96[AFR][1000 genomes]
rs73979693	0.96[AFR][1000 genomes]
rs73979694	0.96[AFR][1000 genomes]
rs73979698	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73979701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv431857	chr2:187930023-188098798	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875555	chr2:188023107-188143677	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2751839	chr2:188035947-188141690	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763652	chr2:188042583-188153257	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1004711	chr2:188044247-188142073	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv997699	chr2:188052351-188142073	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188080000-188081200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:188080000-188082000	Enhancers	HSMMtube	muscle
3	chr2:188080200-188080600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:188080200-188080600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:188080200-188080600	Enhancers	HSMM	muscle
6	chr2:188080200-188080800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:188080200-188081000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:188080400-188080800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:188080400-188080800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:188080400-188080800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:188080400-188080800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:188080400-188081200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:188080400-188081400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:188080400-188081600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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