Variant report

Variant	rs2453094
Chromosome Location	chr15:57903388-57903389
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	chr15:57897591..57899946-chr15:57902419..57904652,2	MCF-7	breast:
2	chr15:57850660..57853481-chr15:57902440..57904405,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1425947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1425950	1.00[AMR][1000 genomes]
rs1541753	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690334	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2008272	1.00[AMR][1000 genomes]
rs2042698	1.00[AMR][1000 genomes]
rs2087980	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2433201	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453093	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453099	0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2470358	1.00[AMR][1000 genomes]
rs2635384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733597	1.00[AMR][1000 genomes]
rs2733618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55765315	1.00[AMR][1000 genomes]
rs59624123	1.00[AMR][1000 genomes]
rs7172191	1.00[AMR][1000 genomes]
rs7172368	1.00[AMR][1000 genomes]
rs890269	1.00[AMR][1000 genomes]
rs890270	1.00[AMR][1000 genomes]
rs935548	0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr15:57890200-57904200	Weak transcription	Fetal Stomach	stomach
2	chr15:57890200-57904400	Weak transcription	Fetal Lung	lung
3	chr15:57892000-57908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:57894400-57938200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr15:57897000-57909200	Weak transcription	Psoas Muscle	Psoas
6	chr15:57897200-57903600	Weak transcription	Aorta	Aorta
7	chr15:57897200-57903800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:57899000-57905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr15:57899200-57905000	Enhancers	Duodenum Mucosa	Duodenum
10	chr15:57899200-57905200	Enhancers	Fetal Heart	heart
11	chr15:57899400-57903400	Enhancers	HUVEC	blood vessel
12	chr15:57899400-57904000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr15:57899600-57904000	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:57899800-57903600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:57900000-57904200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:57900000-57904200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:57900200-57904200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:57900200-57904800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:57900400-57903600	Weak transcription	HMEC	breast
20	chr15:57900400-57904400	Enhancers	Stomach Mucosa	stomach
21	chr15:57900600-57904000	Weak transcription	Placenta	Placenta
22	chr15:57900600-57905200	Enhancers	Fetal Intestine Large	intestine
23	chr15:57900600-57911800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:57900600-57941600	Weak transcription	Colonic Mucosa	Colon
25	chr15:57900800-57904000	Weak transcription	Lung	lung
26	chr15:57901200-57903600	Weak transcription	Right Ventricle	heart
27	chr15:57901200-57905000	Enhancers	Colon Smooth Muscle	Colon
28	chr15:57901600-57905000	Enhancers	Fetal Intestine Small	intestine
29	chr15:57901800-57912000	Weak transcription	Spleen	Spleen
30	chr15:57902000-57904600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:57902200-57903800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:57902200-57904800	Enhancers	NHEK	skin
33	chr15:57902400-57903400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:57902400-57903400	Weak transcription	Adipose Nuclei	Adipose
35	chr15:57902400-57903400	Enhancers	Ovary	ovary
36	chr15:57902600-57904600	Enhancers	Pancreas	Pancrea
37	chr15:57902600-57904800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:57902600-57907800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:57902800-57903400	Enhancers	Left Ventricle	heart
40	chr15:57902800-57904400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:57902800-57904400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:57902800-57904800	Enhancers	Stomach Smooth Muscle	stomach
43	chr15:57903000-57904000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:57903000-57904200	Weak transcription	Gastric	stomach
45	chr15:57903000-57904200	Enhancers	Hela-S3	cervix
46	chr15:57903000-57904200	Weak transcription	Osteobl	bone
47	chr15:57903000-57904400	Enhancers	Rectal Smooth Muscle	rectum
48	chr15:57903000-57904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr15:57903000-57904600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr15:57903000-57904800	Enhancers	A549	lung

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