Variant report

Variant	rs72751649
Chromosome Location	chr15:83239087-83239088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83237529..83239820-chr15:83240454..83244037,3	MCF-7	breast:
2	chr15:83238387..83241317-chr15:83241503..83245353,3	K562	blood:

Variant related genes	Relation type
ENSG00000214575	Chromatin interaction

Extended variants
information (count: 66 )
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]
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]
rs72751683	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:7 , 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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83219000-83239400	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:83219800-83239800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:83222000-83239200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:83222600-83239400	Weak transcription	Fetal Stomach	stomach
5	chr15:83222600-83239600	Weak transcription	Ovary	ovary
6	chr15:83222600-83239600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:83222800-83240600	Weak transcription	Aorta	Aorta
8	chr15:83223800-83239600	Weak transcription	Brain Substantia Nigra	brain
9	chr15:83224800-83239800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:83232200-83239400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:83232600-83239600	Weak transcription	Fetal Lung	lung
12	chr15:83234400-83239400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:83234400-83239800	Weak transcription	HSMMtube	muscle
14	chr15:83234600-83239600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:83234600-83239800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:83234600-83239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:83234800-83239400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr15:83234800-83239400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:83234800-83239600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:83235800-83239400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:83235800-83239600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:83236000-83239200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:83236000-83239200	Weak transcription	NHLF	lung
24	chr15:83236000-83239400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:83236000-83239600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:83236000-83239600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:83236000-83239600	Weak transcription	NH-A	brain
28	chr15:83236000-83243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:83236200-83239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:83237000-83239400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr15:83237200-83239200	Weak transcription	K562	blood
32	chr15:83237200-83239400	Active TSS	Brain Cingulate Gyrus	brain
33	chr15:83237200-83239600	Active TSS	Brain Angular Gyrus	brain
34	chr15:83237600-83239600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:83237600-83239800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:83238000-83239600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:83238000-83239800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:83238000-83239800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:83238200-83239200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:83238600-83239600	Enhancers	NHDF-Ad	bronchial
41	chr15:83238600-83239600	Enhancers	Osteobl	bone
42	chr15:83238800-83239200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr15:83238800-83239400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:83238800-83239400	Enhancers	Brain Anterior Caudate	brain
45	chr15:83238800-83240000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr15:83239000-83239400	Enhancers	Brain Hippocampus Middle	brain

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