Variant report

Variant	rs2054717
Chromosome Location	chr15:59607248-59607249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59562314..59564735-chr15:59605460..59607283,2	MCF-7	breast:
2	chr15:59576379..59578865-chr15:59606956..59609965,3	MCF-7	breast:
3	chr15:59605919..59608899-chr6:62197305..62198810,2	MCF-7	breast:
4	chr15:59606296..59607866-chr15:59608683..59610197,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259771	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10851648	0.82[ASN][1000 genomes]
rs10851649	0.83[ASN][1000 genomes]
rs34395963	0.86[ASN][1000 genomes]
rs4775149	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59600000-59627400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:59603200-59607600	Enhancers	Primary B cells from peripheral blood	blood
3	chr15:59604400-59609200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:59604600-59607600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr15:59604600-59608600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:59604600-59608600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr15:59604600-59609000	Enhancers	Brain Angular Gyrus	brain
8	chr15:59604800-59610200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr15:59605000-59607800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:59605000-59608000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:59605000-59609400	Enhancers	Brain Hippocampus Middle	brain
12	chr15:59605000-59609600	Weak transcription	Spleen	Spleen
13	chr15:59605200-59608200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr15:59605200-59608800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:59605200-59609400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:59605200-59609600	Enhancers	Brain Substantia Nigra	brain
17	chr15:59605200-59610200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:59605400-59607400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr15:59605400-59608400	Enhancers	Fetal Heart	heart
20	chr15:59605400-59608600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr15:59605400-59608600	Enhancers	HMEC	breast
22	chr15:59605400-59608800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr15:59605400-59609000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:59605400-59609000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:59605400-59609800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:59605400-59609800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:59605400-59609800	Enhancers	HSMM	muscle
28	chr15:59605400-59610200	Enhancers	Osteobl	bone
29	chr15:59605600-59607400	Enhancers	Psoas Muscle	Psoas
30	chr15:59605600-59607400	Enhancers	NH-A	brain
31	chr15:59605600-59609400	Enhancers	Colon Smooth Muscle	Colon
32	chr15:59605800-59607400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr15:59605800-59608600	Enhancers	Colonic Mucosa	Colon
34	chr15:59605800-59608800	Enhancers	Right Ventricle	heart
35	chr15:59605800-59610000	Enhancers	NHLF	lung
36	chr15:59605800-59610600	Enhancers	NHDF-Ad	bronchial
37	chr15:59606000-59608200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:59606000-59608800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr15:59606200-59608800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:59606400-59607800	Enhancers	NHEK	skin
41	chr15:59606400-59608000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr15:59606400-59608000	Weak transcription	Ovary	ovary
43	chr15:59606400-59608600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:59606400-59614000	Weak transcription	Fetal Intestine Small	intestine
45	chr15:59606600-59607800	Weak transcription	Fetal Brain Female	brain
46	chr15:59606600-59608000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:59606600-59608000	Weak transcription	Brain Germinal Matrix	brain
48	chr15:59606600-59608200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr15:59606600-59608200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:59606600-59621200	Weak transcription	Fetal Kidney	kidney

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