Variant report

Variant	rs72751640
Chromosome Location	chr15:83221007-83221008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83220388..83222174-chr15:83223442..83225725,3	MCF-7	breast:
2	chr15:83220707..83222266-chr15:83225159..83227299,2	K562	blood:
3	chr15:83220029..83221658-chr15:83674558..83676728,2	K562	blood:
4	chr15:83213257..83215653-chr15:83219949..83222640,2	K562	blood:
5	chr15:83219752..83221637-chr15:83227634..83229503,2	MCF-7	breast:
6	chr15:83217723..83220183-chr15:83220219..83222791,2	K562	blood:
7	chr15:83218421..83221235-chr15:83235743..83238150,2	K562	blood:

Variant related genes	Relation type
ENSG00000214575	Chromatin interaction
ENSG00000260836	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

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]
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]
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]
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	nsv428645	chr15:83069951-83227151	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83214000-83224800	Strong transcription	Stomach Smooth Muscle	stomach
2	chr15:83214200-83222600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:83214600-83226800	Weak transcription	Gastric	stomach
4	chr15:83216200-83222400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:83216800-83222400	Weak transcription	NHDF-Ad	bronchial
6	chr15:83216800-83222600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:83216800-83235000	Weak transcription	NHLF	lung
8	chr15:83217000-83221600	Strong transcription	Brain Anterior Caudate	brain
9	chr15:83217000-83221600	Strong transcription	Brain Substantia Nigra	brain
10	chr15:83217000-83221800	Strong transcription	Brain Hippocampus Middle	brain
11	chr15:83217000-83221800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:83217000-83222000	Strong transcription	Brain Cingulate Gyrus	brain
13	chr15:83217000-83222000	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr15:83217200-83222000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:83218200-83224800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr15:83218400-83222200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:83218600-83222000	Weak transcription	Aorta	Aorta
18	chr15:83218600-83224800	Weak transcription	Fetal Lung	lung
19	chr15:83219000-83239400	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:83219200-83221400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:83219200-83221400	Enhancers	NHEK	skin
22	chr15:83219200-83222000	Enhancers	HMEC	breast
23	chr15:83219400-83221200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:83219400-83222200	Strong transcription	K562	blood
25	chr15:83219400-83222600	Weak transcription	Osteobl	bone
26	chr15:83219600-83221200	Weak transcription	Fetal Stomach	stomach
27	chr15:83219600-83221200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:83219800-83225800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr15:83219800-83239800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:83220400-83221200	Flanking Active TSS	GM12878-XiMat	blood
31	chr15:83220600-83221400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr15:83220600-83223800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr15:83220800-83221400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr15:83220800-83221600	Strong transcription	Brain Angular Gyrus	brain
35	chr15:83221000-83221400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:83221000-83222000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:83221000-83222200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:83221000-83222600	Strong transcription	Ovary	ovary
39	chr15:83221000-83222600	Weak transcription	HSMMtube	muscle
40	chr15:83221000-83223000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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