Variant report

Variant	rs609222
Chromosome Location	chr1:172180042-172180043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs479185	1.00[EUR][1000 genomes]
rs493630	1.00[EUR][1000 genomes]
rs493657	1.00[EUR][1000 genomes]
rs530846	1.00[EUR][1000 genomes]
rs532194	1.00[EUR][1000 genomes]
rs551742	1.00[EUR][1000 genomes]
rs558496	1.00[EUR][1000 genomes]
rs642312	1.00[EUR][1000 genomes]
rs650603	1.00[EUR][1000 genomes]
rs654524	1.00[EUR][1000 genomes]
rs73039305	1.00[EUR][1000 genomes]
rs73039324	1.00[EUR][1000 genomes]
rs73039369	1.00[EUR][1000 genomes]
rs73039392	1.00[EUR][1000 genomes]
rs73043064	1.00[EUR][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	nsv1000079	chr1:172146935-172230545	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv465650	chr1:172175115-172247127	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548192	chr1:172175115-172247127	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172176600-172189800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:172178200-172181400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:172179600-172180800	Enhancers	Fetal Lung	lung
4	chr1:172180000-172180200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:172180000-172180200	Active TSS	Fetal Muscle Leg	muscle
6	chr1:172180000-172181400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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