Variant report

Variant	rs12441219
Chromosome Location	chr15:78499389-78499390
allele	C/G
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
ENSG00000260988	Chromatin interaction
ENSG00000166411	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1011173	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs28452388	0.80[EUR][1000 genomes]
rs28722516	0.82[EUR][1000 genomes]
rs57021464	0.82[EUR][1000 genomes]
rs57491843	0.82[EUR][1000 genomes]
rs58299587	0.82[EUR][1000 genomes]
rs60968764	0.82[EUR][1000 genomes]
rs62011377	0.92[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:62 , 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	chr15:78495200-78499600	Enhancers	Fetal Heart	heart
11	chr15:78495400-78499600	Enhancers	Psoas Muscle	Psoas
12	chr15:78495400-78499800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:78495400-78502600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:78495400-78510000	Enhancers	Pancreas	Pancrea
15	chr15:78495400-78511000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr15:78495600-78499600	Enhancers	Left Ventricle	heart
17	chr15:78495800-78500200	Enhancers	HSMMtube	muscle
18	chr15:78495800-78501600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr15:78496000-78507200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:78496200-78499800	Enhancers	Ovary	ovary
21	chr15:78496200-78500200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:78496400-78507800	Enhancers	Brain Anterior Caudate	brain
23	chr15:78496600-78502200	Weak transcription	K562	blood
24	chr15:78496800-78500000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:78496800-78500000	Enhancers	HSMM	muscle
26	chr15:78497000-78499600	Enhancers	Fetal Muscle Trunk	muscle
27	chr15:78497000-78499600	Enhancers	Fetal Stomach	stomach
28	chr15:78497000-78500200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:78497200-78500000	Enhancers	Placenta	Placenta
30	chr15:78497200-78503800	Weak transcription	Lung	lung
31	chr15:78497200-78506800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr15:78497400-78499600	Enhancers	NHDF-Ad	bronchial
33	chr15:78497400-78501800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr15:78497600-78500200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:78497800-78501200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:78498000-78499800	Weak transcription	Adipose Nuclei	Adipose
37	chr15:78498000-78500200	Enhancers	Right Atrium	heart
38	chr15:78498000-78502000	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:78498200-78499600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:78498400-78499400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:78498400-78499600	Enhancers	Esophagus	oesophagus
42	chr15:78498400-78502000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:78498400-78503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:78498600-78499600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:78498600-78499800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr15:78498600-78499800	Enhancers	NH-A	brain
47	chr15:78498600-78500000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr15:78498600-78501000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:78498800-78499400	Enhancers	H9 Cell Line	embryonic stem cell
50	chr15:78498800-78499600	Enhancers	HUES6 Cell Line	embryonic stem cell

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