Variant report

Variant	rs73917246
Chromosome Location	chr2:11667123-11667124
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]
rs56393100	1.00[AMR][1000 genomes]
rs57683597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61394202	1.00[AMR][1000 genomes]
rs73915405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73915408	1.00[AMR][1000 genomes]
rs73915414	1.00[AMR][1000 genomes]
rs73915415	1.00[AMR][1000 genomes]
rs73917204	1.00[AMR][1000 genomes]
rs73917243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73917247	1.00[AFR][1000 genomes];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	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
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11656200-11671000	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:11656200-11672800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:11662400-11668000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:11664600-11676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:11665000-11667400	Weak transcription	HepG2	liver
6	chr2:11665000-11671200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:11665000-11672200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:11665000-11678000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:11666000-11668000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:11666000-11671200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:11666200-11667600	Weak transcription	Ovary	ovary
12	chr2:11666200-11672400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:11666600-11672400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:11666800-11667400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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