Variant report

Variant	rs62041307
Chromosome Location	chr16:79783992-79783993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79780045..79782681-chr16:79783424..79786926,3	K562	blood:
2	chr16:79782700..79785427-chr16:79803858..79806131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261390	Chromatin interaction
ENSG00000260876	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs17690030	0.85[EUR][1000 genomes]
rs28414130	0.85[EUR][1000 genomes]
rs28687312	0.85[EUR][1000 genomes]
rs4458007	0.85[EUR][1000 genomes]
rs55981441	0.85[EUR][1000 genomes]
rs55993612	0.85[EUR][1000 genomes]
rs56006814	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56052219	1.00[AFR][1000 genomes]
rs56119147	0.85[EUR][1000 genomes]
rs62041260	0.85[EUR][1000 genomes]
rs62041303	0.85[EUR][1000 genomes]
rs62041304	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62041308	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041309	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041310	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041311	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041312	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041313	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041316	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041317	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041318	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041319	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041320	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041323	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62041324	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62041325	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62041326	1.00[AFR][1000 genomes]
rs62041327	1.00[AFR][1000 genomes]
rs62041339	1.00[AFR][1000 genomes]
rs62041344	1.00[AFR][1000 genomes]
rs62041345	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62041346	1.00[AFR][1000 genomes]
rs62041347	0.82[EUR][1000 genomes]
rs62041348	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62041349	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62043341	0.83[AFR][1000 genomes]
rs62043342	0.83[AFR][1000 genomes]
rs62043343	0.83[AFR][1000 genomes]
rs62043344	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62043346	0.85[EUR][1000 genomes]
rs62043347	0.85[EUR][1000 genomes]
rs62043348	0.85[EUR][1000 genomes]
rs62043349	0.85[EUR][1000 genomes]
rs62043352	0.85[EUR][1000 genomes]
rs62043353	0.85[EUR][1000 genomes]
rs62043354	0.85[EUR][1000 genomes]
rs62043355	0.85[EUR][1000 genomes]
rs62043356	0.85[EUR][1000 genomes]
rs62043357	0.85[EUR][1000 genomes]
rs62043358	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62043359	0.85[EUR][1000 genomes]
rs7187139	0.81[EUR][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr16:79772600-79785600	Weak transcription	Fetal Lung	lung
2	chr16:79782600-79785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:79782800-79784400	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr16:79783200-79784000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:79783400-79785000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:79783600-79784000	ZNF genes & repeats	Lung	lung
7	chr16:79783600-79788400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:79783600-79789000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr16:79783800-79786600	Weak transcription	Fetal Thymus	thymus

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