Variant report

Variant	rs11970056
Chromosome Location	chr6:133622979-133622980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10080311	0.83[AMR][1000 genomes]
rs10485234	0.83[AMR][1000 genomes]
rs17062240	0.83[AMR][1000 genomes]
rs7748844	0.83[AMR][1000 genomes]
rs7756406	0.83[AMR][1000 genomes]
rs9483562	0.83[AMR][1000 genomes]
rs9483572	0.85[AMR][1000 genomes]
rs9493566	0.83[AMR][1000 genomes]
rs9493567	0.83[AMR][1000 genomes]
rs9493569	0.83[AMR][1000 genomes]
rs9493570	0.83[AMR][1000 genomes]
rs9493571	0.83[AMR][1000 genomes]
rs9493572	0.83[AMR][1000 genomes]
rs9493573	0.83[AMR][1000 genomes]
rs9493587	0.85[AMR][1000 genomes]
rs9493592	1.00[AMR][1000 genomes]
rs9493598	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv886678	chr6:133550279-133631190	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886679	chr6:133578733-133635272	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv886680	chr6:133613759-133663021	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133599000-133629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:133613000-133630600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:133613000-133655000	Weak transcription	Hela-S3	cervix
4	chr6:133620800-133623000	Weak transcription	Left Ventricle	heart
5	chr6:133620800-133626200	Weak transcription	Psoas Muscle	Psoas
6	chr6:133621600-133623000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:133621800-133623200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:133622600-133623200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr6:133622800-133623200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:133622800-133623200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:133622800-133623200	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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