Variant report

Variant	rs56988494
Chromosome Location	chr2:233887661-233887662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10188810	1.00[AFR][1000 genomes]
rs10205638	0.96[AFR][1000 genomes]
rs13382920	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13386966	0.93[AFR][1000 genomes]
rs56295227	0.96[AFR][1000 genomes]
rs56383003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59766263	1.00[AFR][1000 genomes]
rs73995793	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876011	chr2:233809244-233912755	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233864400-233902800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233875600-233888000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:233881400-233890400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:233886200-233888400	Enhancers	K562	blood
5	chr2:233886400-233888400	Enhancers	Placenta	Placenta
6	chr2:233886600-233889000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:233886800-233890400	Weak transcription	HSMMtube	muscle
8	chr2:233886800-233890400	Weak transcription	Osteobl	bone
9	chr2:233887400-233887800	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:233887400-233890400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:233887600-233887800	Enhancers	Gastric	stomach
12	chr2:233887600-233887800	Enhancers	Stomach Mucosa	stomach
13	chr2:233887600-233888400	Enhancers	Esophagus	oesophagus

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Input of quick search could be:

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

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