Variant report

Variant	rs2414584
Chromosome Location	chr15:58785551-58785552
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	chr15:58783009..58786824-chr15:58787772..58790243,5	K562	blood:
2	chr15:58778802..58780678-chr15:58783257..58786951,3	K562	blood:

Variant related genes	Relation type
ENSG00000128918	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12441205	1.00[AMR][1000 genomes]
rs1869136	1.00[AMR][1000 genomes]
rs1869139	1.00[AMR][1000 genomes]
rs1869141	1.00[AMR][1000 genomes]
rs41292496	1.00[EUR][1000 genomes]
rs4774299	1.00[AMR][1000 genomes]
rs4775059	1.00[AMR][1000 genomes]
rs58829990	1.00[EUR][1000 genomes]
rs59288334	1.00[EUR][1000 genomes]
rs59630303	1.00[EUR][1000 genomes]
rs61583131	1.00[EUR][1000 genomes]
rs6494014	1.00[AMR][1000 genomes]
rs6494015	1.00[AMR][1000 genomes]
rs73412744	1.00[EUR][1000 genomes]
rs73422649	1.00[EUR][1000 genomes]
rs73422655	1.00[EUR][1000 genomes]
rs73424700	1.00[EUR][1000 genomes]
rs73426704	1.00[EUR][1000 genomes]
rs73426709	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv904268	chr15:58763678-58803225	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58780200-58787800	Weak transcription	Fetal Kidney	kidney
2	chr15:58780800-58786200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr15:58782400-58785600	Enhancers	Fetal Muscle Leg	muscle
4	chr15:58782600-58785600	Enhancers	Fetal Muscle Trunk	muscle
5	chr15:58782600-58785600	Enhancers	HSMMtube	muscle
6	chr15:58782600-58789400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:58782800-58785600	Enhancers	Psoas Muscle	Psoas
8	chr15:58782800-58785600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr15:58783000-58785600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:58783000-58785600	Enhancers	HSMM	muscle
11	chr15:58783200-58786400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:58783200-58789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:58783400-58788400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr15:58783400-58789600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:58783400-58791600	Enhancers	Fetal Thymus	thymus
16	chr15:58783800-58788200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:58784000-58785600	Enhancers	Thymus	Thymus
18	chr15:58784000-58794800	Weak transcription	Stomach Mucosa	stomach
19	chr15:58784000-58797800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:58784200-58787600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:58784200-58791000	Weak transcription	HMEC	breast
22	chr15:58784400-58787400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:58784400-58787400	Weak transcription	Esophagus	oesophagus
24	chr15:58784400-58791200	Weak transcription	Right Atrium	heart
25	chr15:58784400-58795600	Weak transcription	Liver	Liver
26	chr15:58784800-58785600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr15:58784800-58785600	Enhancers	Dnd41	blood
28	chr15:58784800-58785600	Enhancers	K562	blood
29	chr15:58785000-58785600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:58785000-58797200	Weak transcription	Right Ventricle	heart
31	chr15:58785200-58785600	Enhancers	Primary hematopoietic stem cells	blood
32	chr15:58785200-58785600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:58785200-58791200	Weak transcription	Brain Substantia Nigra	brain
34	chr15:58785400-58785600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:58785400-58785600	Enhancers	Pancreas	Pancrea

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