Variant report

Variant	rs56139073
Chromosome Location	chr2:211481976-211481977
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58205745	1.00[AMR][1000 genomes]
rs59741271	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73073555	1.00[AMR][1000 genomes]
rs73073558	1.00[AMR][1000 genomes]
rs73073575	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73073577	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73073588	1.00[AMR][1000 genomes]
rs73073600	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73076011	1.00[AMR][1000 genomes]
rs73076037	1.00[AMR][1000 genomes]
rs73984620	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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211442400-211484200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:211458600-211485000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:211467200-211482000	Weak transcription	HepG2	liver
4	chr2:211471800-211494000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:211474400-211485000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:211474800-211482800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:211477800-211483400	Genic enhancers	Liver	Liver
8	chr2:211479000-211482200	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:211479400-211482200	Weak transcription	Hela-S3	cervix
10	chr2:211481400-211483200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:211481600-211482600	Weak transcription	Fetal Intestine Large	intestine

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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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