Variant report

Variant	rs56938823
Chromosome Location	chr4:100520518-100520519
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1491241	1.00[ASN][1000 genomes]
rs17598940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600719	1.00[ASN][1000 genomes]
rs56225403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56291001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56304620	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677213	1.00[ASN][1000 genomes]
rs956201	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100507800-100533800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:100511400-100520800	Strong transcription	Duodenum Mucosa	Duodenum
3	chr4:100516400-100546200	Strong transcription	Liver	Liver
4	chr4:100516800-100521600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:100516800-100532000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:100518800-100522600	Weak transcription	Fetal Intestine Large	intestine
7	chr4:100518800-100522600	Weak transcription	HepG2	liver
8	chr4:100518800-100545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:100520200-100529200	Weak transcription	Fetal Intestine Small	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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