Variant report

Variant	rs17116189
Chromosome Location	chr1:97470369-97470370
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1489806	1.00[AMR][1000 genomes]
rs17115970	1.00[AMR][1000 genomes]
rs17115981	1.00[AMR][1000 genomes]
rs17115983	1.00[AMR][1000 genomes]
rs17116008	1.00[AMR][1000 genomes]
rs17116027	1.00[AMR][1000 genomes]
rs17116031	1.00[AMR][1000 genomes]
rs17116059	1.00[AMR][1000 genomes]
rs17116150	1.00[AMR][1000 genomes]
rs17116309	0.82[AFR][1000 genomes];1.00[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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:97458600-97471200	Weak transcription	HSMM	muscle
2	chr1:97459000-97471800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:97464600-97471200	Weak transcription	Fetal Brain Male	brain
4	chr1:97464800-97471800	Weak transcription	Aorta	Aorta
5	chr1:97466600-97471600	Weak transcription	Fetal Heart	heart
6	chr1:97468800-97470600	Enhancers	Osteobl	bone
7	chr1:97469000-97470600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:97470200-97471200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:97470200-97471200	Weak transcription	HSMMtube	muscle
10	chr1:97470200-97471200	Weak transcription	NH-A	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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