Variant report

Variant	rs1836742
Chromosome Location	chr2:212216931-212216932
allele	A/G
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:10)

rs_ID	r²[population]
rs1595065	0.80[EUR][1000 genomes]
rs1836733	0.85[AMR][1000 genomes]
rs1836741	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836743	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1836744	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2033648	0.84[ASN][1000 genomes]
rs6727172	0.82[ASN][1000 genomes]
rs6747894	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7571245	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7599288	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv834522	chr2:212066442-212225328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv584313	chr2:212176967-212224689	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv875776	chr2:212196908-212264818	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212214200-212223000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:212214200-212232000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:212216600-212217000	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:212216600-212217200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:212216600-212217200	Enhancers	Brain Hippocampus Middle	brain
6	chr2:212216600-212217200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr2:212216600-212217600	Enhancers	Brain Germinal Matrix	brain
8	chr2:212216600-212217600	Enhancers	Brain Substantia Nigra	brain
9	chr2:212216600-212217800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:212216800-212217200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:212216800-212217200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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