Variant report

Variant	rs55833494
Chromosome Location	chr2:188054240-188054241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11890809	0.92[AFR][1000 genomes]
rs11891854	0.89[AFR][1000 genomes]
rs11894501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11896449	0.92[AFR][1000 genomes]
rs16828613	0.83[AFR][1000 genomes]
rs4600612	0.95[AFR][1000 genomes]
rs6727719	0.89[AFR][1000 genomes]
rs73979625	0.91[AFR][1000 genomes]
rs73979631	0.92[AFR][1000 genomes]
rs73979636	0.92[AFR][1000 genomes]
rs73979642	0.88[AFR][1000 genomes]
rs73979698	0.85[AMR][1000 genomes]
rs7602101	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188052200-188054600	Enhancers	HUVEC	blood vessel
2	chr2:188052200-188055600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:188053200-188055000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:188053600-188054400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr2:188054000-188054600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:188054200-188054600	Weak transcription	Stomach Mucosa	stomach

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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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