Variant report

Variant	rs72870949
Chromosome Location	chr6:45154681-45154682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56030343	0.90[EUR][1000 genomes]
rs72857099	0.83[EUR][1000 genomes]
rs72858528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72858557	0.90[EUR][1000 genomes]
rs72858585	0.90[EUR][1000 genomes]
rs72858592	0.90[EUR][1000 genomes]
rs72860185	0.90[EUR][1000 genomes]
rs72867457	0.81[EUR][1000 genomes]
rs72870953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv492309	chr6:45020402-45233484	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1032906	chr6:45069368-45212863	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45152600-45155400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr6:45152800-45156400	Enhancers	Dnd41	blood
3	chr6:45153200-45155200	Enhancers	Primary T cells from cord blood	blood
4	chr6:45153600-45155400	Weak transcription	HMEC	breast
5	chr6:45153800-45163000	Weak transcription	Psoas Muscle	Psoas
6	chr6:45154000-45155200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:45154000-45156200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:45154400-45158600	Weak transcription	HepG2	liver
9	chr6:45154600-45155400	Enhancers	NHEK	skin

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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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