Variant report

Variant	rs16969385
Chromosome Location	chr15:39909571-39909572
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39909459..39912628-chr15:39921888..39923922,3	MCF-7	breast:
2	chr15:39876322..39882916-chr15:39908249..39913734,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137801	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11636194	1.00[AMR][1000 genomes]
rs16952166	1.00[AMR][1000 genomes]
rs16969215	1.00[AMR][1000 genomes]
rs16969225	1.00[AMR][1000 genomes]
rs16969244	1.00[AMR][1000 genomes]
rs16969310	1.00[AMR][1000 genomes]
rs16969567	1.00[AMR][1000 genomes]
rs16969594	1.00[AMR][1000 genomes]
rs16969623	1.00[AMR][1000 genomes]
rs16969673	1.00[AMR][1000 genomes]
rs16969697	1.00[AMR][1000 genomes]
rs16969698	1.00[AMR][1000 genomes]
rs16969766	1.00[AMR][1000 genomes]
rs16969787	1.00[AMR][1000 genomes]
rs16969794	1.00[AMR][1000 genomes]
rs16969798	1.00[AMR][1000 genomes]
rs16969817	1.00[AMR][1000 genomes]
rs275740	1.00[AMR][1000 genomes]
rs56932964	1.00[AMR][1000 genomes]
rs58338921	1.00[AMR][1000 genomes]
rs58368477	1.00[AMR][1000 genomes]
rs584244	1.00[AMR][1000 genomes]
rs60403575	1.00[AMR][1000 genomes]
rs60701446	1.00[AMR][1000 genomes]
rs61461459	1.00[AMR][1000 genomes]
rs649015	1.00[AMR][1000 genomes]
rs650424	1.00[AMR][1000 genomes]
rs684438	1.00[AMR][1000 genomes]
rs73391276	1.00[AMR][1000 genomes]
rs73391292	1.00[AMR][1000 genomes]
rs73391299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1048628	chr15:39877498-39940104	Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1502	chr15:39884314-39928968	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39904000-39913400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:39906600-39916000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:39908000-39909800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:39908400-39909800	Enhancers	HUVEC	blood vessel
5	chr15:39908600-39910800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:39908800-39911400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:39909200-39910200	Weak transcription	A549	lung
8	chr15:39909200-39911000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:39909200-39913400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:39909400-39909800	Flanking Active TSS	HMEC	breast
11	chr15:39909400-39909800	Flanking Active TSS	NHEK	skin
12	chr15:39909400-39910600	Weak transcription	Left Ventricle	heart

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