Variant report

Variant	rs72751683
Chromosome Location	chr15:83312603-83312604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83311482..83314245-chr15:83326104..83328950,2	K562	blood:
2	chr15:83311386..83314331-chr15:83366792..83368787,2	K562	blood:
3	chr15:83311716..83313407-chr15:83348660..83350987,2	MCF-7	breast:
4	chr15:83292844..83294739-chr15:83312087..83314225,2	K562	blood:

Variant related genes	Relation type
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs55698109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55700126	1.00[EUR][1000 genomes]
rs55732481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55765708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55769553	1.00[EUR][1000 genomes]
rs55898630	1.00[EUR][1000 genomes]
rs56144034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56261932	1.00[EUR][1000 genomes]
rs56402538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751663	1.00[EUR][1000 genomes]
rs72751664	1.00[EUR][1000 genomes]
rs72751669	1.00[EUR][1000 genomes]
rs72751670	1.00[EUR][1000 genomes]
rs72751671	1.00[EUR][1000 genomes]
rs72751674	1.00[EUR][1000 genomes]
rs72751678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753936	1.00[EUR][1000 genomes]
rs72753937	1.00[EUR][1000 genomes]
rs72753940	0.91[EUR][1000 genomes]
rs72753942	0.91[EUR][1000 genomes]
rs72753946	0.91[EUR][1000 genomes]
rs72753949	0.91[EUR][1000 genomes]
rs72753951	0.91[EUR][1000 genomes]
rs72753953	0.91[EUR][1000 genomes]
rs72753954	0.91[EUR][1000 genomes]
rs72753960	0.91[EUR][1000 genomes]
rs73443047	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035899	chr15:83108446-83315731	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3344877	chr15:83294946-83316565	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
13	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	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	chr15:83282800-83312800	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:83306400-83315000	Weak transcription	Pancreas	Pancrea
3	chr15:83310200-83312800	Weak transcription	Brain Anterior Caudate	brain
4	chr15:83312400-83312800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:83312400-83314000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:83312600-83312800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:83312600-83312800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr15:83312600-83313000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:83312600-83313200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr15:83312600-83313400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr15:83312600-83313400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:83312600-83314000	Flanking Active TSS	K562	blood

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