Variant report

Variant	rs4461012
Chromosome Location	chr15:56133376-56133377
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56119087..56120835-chr15:56131695..56134101,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRTG-1	chr15:56132925-56133413	expReg_chr15_4281_-

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12439559	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12900655	0.81[EUR][1000 genomes]
rs12911130	1.00[ASN][1000 genomes]
rs4774830	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7168508	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7169566	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8029764	0.86[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	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56112600-56133600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:56115400-56148000	Weak transcription	Ovary	ovary
3	chr15:56116400-56133400	Weak transcription	Fetal Lung	lung
4	chr15:56116600-56150600	Weak transcription	Right Ventricle	heart
5	chr15:56116800-56162200	Weak transcription	Fetal Heart	heart
6	chr15:56118600-56151000	Weak transcription	Fetal Kidney	kidney
7	chr15:56118800-56147000	Weak transcription	Gastric	stomach
8	chr15:56118800-56149200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:56118800-56151400	Weak transcription	Brain Anterior Caudate	brain
10	chr15:56119400-56134800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:56120000-56136800	Strong transcription	Liver	Liver
12	chr15:56120000-56144800	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:56120000-56147800	Weak transcription	HepG2	liver
14	chr15:56120600-56146600	Weak transcription	Pancreas	Pancrea
15	chr15:56120800-56147200	Weak transcription	Thymus	Thymus
16	chr15:56121200-56147200	Weak transcription	Spleen	Spleen
17	chr15:56121800-56135600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:56122000-56136600	Strong transcription	Fetal Intestine Large	intestine
19	chr15:56122200-56135400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:56122200-56136000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:56122400-56136800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:56122400-56145200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr15:56122600-56134200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:56122600-56152000	Weak transcription	Fetal Thymus	thymus
25	chr15:56122600-56153800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr15:56122600-56154800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr15:56122600-56156600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:56122800-56134800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:56122800-56141600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:56122800-56147200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:56122800-56147600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:56122800-56156000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:56123000-56136800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:56123000-56140200	Weak transcription	Dnd41	blood
35	chr15:56123200-56137600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:56123800-56137000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:56125000-56133400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:56125000-56133400	Weak transcription	Aorta	Aorta
39	chr15:56126400-56134600	Strong transcription	NH-A	brain
40	chr15:56126600-56137600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:56127000-56137000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr15:56127200-56155400	Strong transcription	Osteobl	bone
43	chr15:56127200-56155800	Strong transcription	HSMM	muscle
44	chr15:56127800-56136800	Strong transcription	Placenta	Placenta
45	chr15:56128200-56133600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:56128200-56134600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:56128200-56136200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:56128800-56133400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:56128800-56134400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:56129000-56157400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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