Variant report

Variant	rs2802686
Chromosome Location	chr6:69384530-69384531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2249399	1.00[CEU][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2250130	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2585591	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2585595	1.00[EUR][1000 genomes]
rs2585606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2585613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2585615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2746139	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802685	1.00[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802695	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2802711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs352524	1.00[CEU][hapmap]
rs483076	1.00[MKK][hapmap]
rs513357	1.00[MKK][hapmap]
rs544495	1.00[MKK][hapmap]
rs556592	1.00[MKK][hapmap]
rs556962	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs570708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs578564	1.00[AMR][1000 genomes];1.00[EUR][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	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1015906	chr6:69376236-69416331	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69352200-69399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:69364200-69399800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:69379200-69396200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:69379200-69398800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:69383000-69384800	Enhancers	Fetal Heart	heart
6	chr6:69383200-69400000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:69383400-69388200	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:69383600-69386400	Weak transcription	Brain Germinal Matrix	brain
9	chr6:69383600-69386400	Weak transcription	K562	blood
10	chr6:69383600-69396000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:69383800-69388400	Weak transcription	Brain Anterior Caudate	brain
12	chr6:69384400-69386000	Weak transcription	Fetal Lung	lung

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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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