Variant report

Variant	rs72751671
Chromosome Location	chr15:83291684-83291685
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83286159..83288277-chr15:83291289..83293373,3	K562	blood:
2	chr15:83290643..83294390-chr15:83347745..83350836,4	MCF-7	breast:
3	chr15:83289603..83291786-chr15:83330792..83332335,2	K562	blood:
4	chr15:83289605..83293434-chr15:83349009..83350670,4	MCF-7	breast:
5	chr15:83290172..83292221-chr15:83420651..83422784,2	MCF-7	breast:
6	chr15:83290488..83293099-chr15:83294149..83296751,2	K562	blood:

Variant related genes	Relation type
ENSG00000252690	Chromatin interaction
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs55698109	1.00[EUR][1000 genomes]
rs55700126	1.00[EUR][1000 genomes]
rs55732481	1.00[EUR][1000 genomes]
rs55765708	1.00[EUR][1000 genomes]
rs55769553	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55770061	0.83[AMR][1000 genomes]
rs55787821	0.83[AMR][1000 genomes]
rs55898630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55899409	0.83[AMR][1000 genomes]
rs55933319	0.83[AMR][1000 genomes]
rs55994913	0.83[AMR][1000 genomes]
rs56029996	0.83[AMR][1000 genomes]
rs56144034	1.00[EUR][1000 genomes]
rs56261932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56402538	1.00[EUR][1000 genomes]
rs72749548	0.83[AMR][1000 genomes]
rs72749551	0.83[AMR][1000 genomes]
rs72749552	0.83[AMR][1000 genomes]
rs72749565	0.83[AMR][1000 genomes]
rs72749566	0.83[AMR][1000 genomes]
rs72749570	0.83[AMR][1000 genomes]
rs72749573	0.83[AMR][1000 genomes]
rs72749577	0.83[AMR][1000 genomes]
rs72749581	0.83[AMR][1000 genomes]
rs72749582	0.83[AMR][1000 genomes]
rs72749585	0.83[AMR][1000 genomes]
rs72749587	0.83[AMR][1000 genomes]
rs72749592	0.83[AMR][1000 genomes]
rs72749593	0.83[AMR][1000 genomes]
rs72749595	0.83[AMR][1000 genomes]
rs72749596	0.83[AMR][1000 genomes]
rs72749598	0.83[AMR][1000 genomes]
rs72749600	0.83[AMR][1000 genomes]
rs72749602	0.83[AMR][1000 genomes]
rs72751603	0.83[AMR][1000 genomes]
rs72751606	0.83[AMR][1000 genomes]
rs72751611	0.83[AMR][1000 genomes]
rs72751612	0.83[AMR][1000 genomes]
rs72751613	0.83[AMR][1000 genomes]
rs72751631	1.00[EUR][1000 genomes]
rs72751636	1.00[EUR][1000 genomes]
rs72751640	1.00[EUR][1000 genomes]
rs72751642	1.00[EUR][1000 genomes]
rs72751644	1.00[EUR][1000 genomes]
rs72751649	1.00[EUR][1000 genomes]
rs72751653	1.00[EUR][1000 genomes]
rs72751654	1.00[EUR][1000 genomes]
rs72751658	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72751659	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72751663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751678	1.00[EUR][1000 genomes]
rs72751679	1.00[EUR][1000 genomes]
rs72751681	1.00[EUR][1000 genomes]
rs72751682	1.00[EUR][1000 genomes]
rs72751683	1.00[EUR][1000 genomes]
rs72751685	1.00[EUR][1000 genomes]
rs72751688	1.00[EUR][1000 genomes]
rs72751689	1.00[EUR][1000 genomes]
rs72751692	1.00[EUR][1000 genomes]
rs72751697	1.00[EUR][1000 genomes]
rs72751698	1.00[EUR][1000 genomes]
rs72751699	1.00[EUR][1000 genomes]
rs72751701	1.00[EUR][1000 genomes]
rs72753903	1.00[EUR][1000 genomes]
rs72753904	1.00[EUR][1000 genomes]
rs72753907	1.00[EUR][1000 genomes]
rs72753912	1.00[EUR][1000 genomes]
rs72753917	1.00[EUR][1000 genomes]
rs72753920	1.00[EUR][1000 genomes]
rs72753923	1.00[EUR][1000 genomes]
rs72753927	1.00[EUR][1000 genomes]
rs72753928	1.00[EUR][1000 genomes]
rs72753929	1.00[EUR][1000 genomes]
rs72753933	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:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427965	chr15:82741381-83310525	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv428309	chr15:82741381-83310525	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2758391	chr15:82879646-83310525	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	esv2760046	chr15:82879646-83310525	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	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
6	nsv833071	chr15:83123646-83310510	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83241800-83297600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:83280200-83293000	Weak transcription	Brain Anterior Caudate	brain
3	chr15:83282800-83312800	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:83283000-83293000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:83283800-83292800	Weak transcription	K562	blood
6	chr15:83287600-83296600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:83288800-83297000	Weak transcription	Brain Substantia Nigra	brain
8	chr15:83290600-83296800	Weak transcription	Brain Angular Gyrus	brain
9	chr15:83291400-83293000	Weak transcription	HSMM	muscle
10	chr15:83291400-83297600	Weak transcription	Brain Cingulate Gyrus	brain

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