Variant report

Variant	rs56044763
Chromosome Location	chr2:11614170-11614171
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]
rs56377296	0.86[AFR][1000 genomes]
rs57030985	0.86[AFR][1000 genomes]
rs61486551	0.81[AFR][1000 genomes]
rs6751942	0.86[AFR][1000 genomes]
rs73915193	0.91[AFR][1000 genomes]
rs73917213	1.00[AFR][1000 genomes]
rs73917218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7586037	0.98[AFR][1000 genomes];1.00[AMR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 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	chr2:11607000-11621200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11607200-11622400	Weak transcription	Spleen	Spleen
3	chr2:11607600-11618000	Weak transcription	Primary T cells from cord blood	blood
4	chr2:11612800-11614800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:11613000-11615200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:11613200-11614600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:11613200-11614800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:11613600-11614400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:11613600-11614800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:11613800-11614600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:11613800-11618200	Weak transcription	HepG2	liver
12	chr2:11614000-11614200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr2:11614000-11618600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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