Variant report

Variant	rs11071223
Chromosome Location	chr15:56115455-56115456
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	chr15:56114839..56117156-chr15:56117660..56120029,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11071224	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12900459	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12906359	0.91[EUR][1000 genomes]
rs12906803	0.91[EUR][1000 genomes]
rs12913719	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12914824	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12915603	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12915759	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28399223	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28421209	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28448752	0.81[ASN][1000 genomes]
rs28452620	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28558756	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28581681	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28582449	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28592882	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8032151	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8036132	0.93[EUR][1000 genomes]
rs8036178	0.93[EUR][1000 genomes]
rs8037018	0.93[EUR][1000 genomes]
rs9888655	0.81[ASN][1000 genomes]
rs9888676	0.81[ASN][1000 genomes]
rs9888698	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833017	chr15:55965957-56157912	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3366380	chr15:56003224-56141650	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr15:56095800-56128600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:56106000-56131200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:56112200-56121800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:56112400-56124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:56112600-56119400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:56112600-56122000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:56112600-56122000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:56112600-56122200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:56112600-56123800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:56112600-56133600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:56114400-56116800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:56114600-56128200	Weak transcription	Esophagus	oesophagus
13	chr15:56114800-56116200	Enhancers	Fetal Muscle Leg	muscle
14	chr15:56115000-56116200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:56115200-56115600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:56115200-56115600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:56115200-56115600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:56115200-56115600	Enhancers	Stomach Smooth Muscle	stomach
19	chr15:56115200-56115800	Enhancers	Hela-S3	cervix
20	chr15:56115200-56115800	Enhancers	HMEC	breast
21	chr15:56115200-56116000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:56115200-56116000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr15:56115200-56116200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:56115200-56116200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:56115200-56116200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:56115200-56116400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr15:56115200-56116400	Enhancers	HSMMtube	muscle
28	chr15:56115200-56116400	Enhancers	NHLF	lung
29	chr15:56115200-56116600	Enhancers	Adipose Nuclei	Adipose
30	chr15:56115200-56116600	Enhancers	Osteobl	bone
31	chr15:56115200-56116800	Enhancers	Fetal Heart	heart
32	chr15:56115200-56116800	Enhancers	Rectal Smooth Muscle	rectum
33	chr15:56115400-56115600	Enhancers	NHEK	skin
34	chr15:56115400-56115800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:56115400-56115800	Flanking Active TSS	NHDF-Ad	bronchial
36	chr15:56115400-56116000	Weak transcription	Psoas Muscle	Psoas
37	chr15:56115400-56116400	Enhancers	Colon Smooth Muscle	Colon
38	chr15:56115400-56116400	Enhancers	Fetal Lung	lung
39	chr15:56115400-56122400	Weak transcription	Aorta	Aorta
40	chr15:56115400-56148000	Weak transcription	Ovary	ovary

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