Variant report

Variant	rs508287
Chromosome Location	chr7:78493541-78493542
allele	C/T
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]
rs12705807	0.85[ASN][1000 genomes]
rs1642892	1.00[CHB][hapmap]
rs17151572	1.00[CHB][hapmap]
rs485473	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs487919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs495644	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs510604	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs521851	0.87[ASN][1000 genomes]
rs549795	1.00[CHB][hapmap]
rs563017	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369491	0.84[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	nsv949647	chr7:78406281-78495913	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78491000-78494000	Enhancers	Fetal Lung	lung
2	chr7:78492200-78494200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:78492400-78493800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:78492600-78493800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:78492600-78493800	Enhancers	Fetal Brain Female	brain
6	chr7:78493000-78494000	Weak transcription	Fetal Intestine Large	intestine
7	chr7:78493000-78494000	Weak transcription	Left Ventricle	heart
8	chr7:78493000-78502600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:78493200-78494000	Enhancers	Brain Germinal Matrix	brain
10	chr7:78493400-78493800	Flanking Active TSS	Fetal Heart	heart

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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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