Variant report

Variant	rs56308433
Chromosome Location	chr15:78499612-78499613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78496538..78499859-chr15:78500154..78502705,3	MCF-7	breast:
2	chr15:78441601..78443214-chr15:78498877..78500521,2	K562	blood:
3	chr15:78433373..78437251-chr15:78499302..78502813,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166411	Chromatin interaction
ENSG00000260988	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16969575	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56287085	0.87[EUR][1000 genomes]
rs61414053	1.00[EUR][1000 genomes]
rs74024190	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74024192	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv948437	chr15:78435527-78504662	Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv904430	chr15:78466127-78507316	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78492800-78500200	Enhancers	Fetal Muscle Leg	muscle
2	chr15:78493800-78504200	Enhancers	Brain Substantia Nigra	brain
3	chr15:78494200-78508800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr15:78494200-78509800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr15:78494800-78508800	Enhancers	Brain Hippocampus Middle	brain
6	chr15:78494800-78509800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr15:78495000-78500200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:78495000-78500400	Enhancers	Brain Angular Gyrus	brain
9	chr15:78495000-78504200	Enhancers	Brain Cingulate Gyrus	brain
10	chr15:78495400-78499800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:78495400-78502600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:78495400-78510000	Enhancers	Pancreas	Pancrea
13	chr15:78495400-78511000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr15:78495800-78500200	Enhancers	HSMMtube	muscle
15	chr15:78495800-78501600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:78496000-78507200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:78496200-78499800	Enhancers	Ovary	ovary
18	chr15:78496200-78500200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:78496400-78507800	Enhancers	Brain Anterior Caudate	brain
20	chr15:78496600-78502200	Weak transcription	K562	blood
21	chr15:78496800-78500000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:78496800-78500000	Enhancers	HSMM	muscle
23	chr15:78497000-78500200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:78497200-78500000	Enhancers	Placenta	Placenta
25	chr15:78497200-78503800	Weak transcription	Lung	lung
26	chr15:78497200-78506800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr15:78497400-78501800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:78497600-78500200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:78497800-78501200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:78498000-78499800	Weak transcription	Adipose Nuclei	Adipose
31	chr15:78498000-78500200	Enhancers	Right Atrium	heart
32	chr15:78498000-78502000	Weak transcription	Colon Smooth Muscle	Colon
33	chr15:78498400-78502000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:78498400-78503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:78498600-78499800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr15:78498600-78499800	Enhancers	NH-A	brain
37	chr15:78498600-78500000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr15:78498600-78501000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:78498800-78499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:78498800-78499800	Enhancers	NHEK	skin
41	chr15:78498800-78499800	Enhancers	Osteobl	bone
42	chr15:78498800-78500000	Enhancers	Hela-S3	cervix
43	chr15:78498800-78501400	Weak transcription	Stomach Mucosa	stomach
44	chr15:78499200-78502000	Weak transcription	Spleen	Spleen
45	chr15:78499200-78504000	Weak transcription	Right Ventricle	heart
46	chr15:78499400-78499800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:78499600-78499800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:78499600-78500600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:78499600-78500800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr15:78499600-78501400	Weak transcription	Esophagus	oesophagus

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