Variant report

Variant	rs2000165
Chromosome Location	chr9:104061686-104061687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10114402	1.00[ASN][1000 genomes]
rs10217724	0.97[EUR][1000 genomes]
rs12337610	0.82[EUR][1000 genomes]
rs12338304	0.97[EUR][1000 genomes]
rs1329078	1.00[ASN][1000 genomes]
rs17764774	1.00[ASN][1000 genomes]
rs2000166	0.94[AFR][1000 genomes]
rs28489693	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6479048	0.82[EUR][1000 genomes]
rs7018478	1.00[ASN][1000 genomes]
rs7021563	1.00[ASN][1000 genomes]
rs719284	1.00[ASN][1000 genomes]
rs7862376	0.93[AFR][1000 genomes]
rs7865392	0.93[AFR][1000 genomes]
rs7875706	0.93[AFR][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	nsv1037157	chr9:104045761-104149233	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1049740	chr9:104049624-104075825	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104046000-104061800	Weak transcription	Brain Substantia Nigra	brain
2	chr9:104048800-104071600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr9:104051400-104067800	Weak transcription	HepG2	liver
4	chr9:104059800-104063000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:104061600-104062000	Bivalent Enhancer	H9 Derived Neuron 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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