Variant report

Variant	rs55878744
Chromosome Location	chr2:183496034-183496035
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10931027	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11686560	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2178104	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2368331	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58682569	0.82[AMR][1000 genomes]
rs67791366	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs67910515	0.84[AFR][1000 genomes]
rs7608726	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7608820	0.86[AFR][1000 genomes];0.81[AMR][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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv1837855	chr2:183452578-183499313	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv999603	chr2:183465151-183551522	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 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	chr2:183491000-183496200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:183491000-183501200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:183491400-183496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:183493600-183501400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:183495000-183496800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:183495600-183496400	Enhancers	Fetal Brain Male	brain
7	chr2:183495600-183496600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:183495600-183497000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:183495800-183496400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:183495800-183496400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:183495800-183496400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:183495800-183496400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:183495800-183496600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:183495800-183496800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:183495800-183497200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:183495800-183497400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:183495800-183497400	Enhancers	Fetal Brain Female	brain
18	chr2:183496000-183496200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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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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