Variant report

Variant	rs12592893
Chromosome Location	chr15:74686400-74686401
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74678499..74686804-chr15:74724020..74729713,13	MCF-7	breast:
2	chr15:74677010..74680844-chr15:74682783..74686822,5	K562	blood:
3	chr15:74664221..74666874-chr15:74684631..74687435,2	K562	blood:
4	chr15:74681754..74686818-chr15:74686850..74691835,9	K562	blood:
5	chr15:74686172..74688047-chr15:74766042..74767580,2	K562	blood:
6	chr15:74673950..74692681-chr15:74720825..74732493,46	MCF-7	breast:
7	chr15:74684231..74686824-chr15:74694888..74698763,3	K562	blood:
8	chr15:74685612..74687526-chr15:74716877..74719383,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138623	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12593390	0.89[EUR][1000 genomes]
rs12594462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12594738	0.89[EUR][1000 genomes]
rs12594826	0.87[AMR][1000 genomes]
rs1370485	0.89[EUR][1000 genomes]
rs28362867	0.89[EUR][1000 genomes]
rs28362876	0.89[EUR][1000 genomes]
rs28362883	0.89[EUR][1000 genomes]
rs28362885	0.89[EUR][1000 genomes]
rs3747478	0.89[EUR][1000 genomes]
rs56679513	0.85[EUR][1000 genomes]
rs57386020	0.85[EUR][1000 genomes]
rs59390045	0.85[EUR][1000 genomes]
rs59457315	0.85[EUR][1000 genomes]
rs59789565	0.85[EUR][1000 genomes]
rs59976160	0.87[AMR][1000 genomes]
rs60419116	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60546922	0.85[EUR][1000 genomes]
rs61153292	0.93[AMR][1000 genomes];0.94[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	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
3	nsv904351	chr15:74638965-74697084	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv904352	chr15:74638965-74715205	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74667400-74691200	Enhancers	Placenta	Placenta
2	chr15:74675800-74695800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr15:74677600-74689000	Weak transcription	Primary T cells from cord blood	blood
4	chr15:74679800-74686400	Weak transcription	Dnd41	blood
5	chr15:74680600-74691800	Enhancers	Fetal Thymus	thymus
6	chr15:74681400-74687400	Weak transcription	HMEC	breast
7	chr15:74681600-74695600	Enhancers	Primary B cells from peripheral blood	blood
8	chr15:74681800-74688800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:74682000-74687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:74682000-74688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:74682400-74686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:74682400-74687800	Weak transcription	Gastric	stomach
13	chr15:74682400-74687800	Weak transcription	Stomach Mucosa	stomach
14	chr15:74683600-74688000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr15:74683600-74688600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:74683800-74687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:74683800-74690200	Enhancers	Fetal Muscle Leg	muscle
18	chr15:74684000-74686800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:74684000-74689000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:74684000-74690200	Enhancers	HSMMtube	muscle
21	chr15:74684200-74688800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:74684200-74689200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr15:74684600-74689200	Weak transcription	Lung	lung
24	chr15:74685000-74686400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:74685000-74687800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:74685000-74688000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:74685000-74688600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr15:74685000-74688600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr15:74685000-74695000	Enhancers	HSMM	muscle
30	chr15:74685000-74695400	Weak transcription	Fetal Lung	lung
31	chr15:74685400-74686600	Weak transcription	NHDF-Ad	bronchial
32	chr15:74685400-74686600	Weak transcription	NHLF	lung
33	chr15:74685400-74686800	Weak transcription	Primary B cells from cord blood	blood
34	chr15:74685400-74687600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:74685400-74688200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:74685400-74688800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:74685400-74694400	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:74685400-74699400	Weak transcription	Brain Substantia Nigra	brain
39	chr15:74685600-74686600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr15:74685600-74686600	Weak transcription	Osteobl	bone
41	chr15:74685600-74686800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:74685600-74688400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:74685800-74686400	Enhancers	GM12878-XiMat	blood
44	chr15:74685800-74686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:74685800-74688400	Weak transcription	Brain Angular Gyrus	brain
46	chr15:74685800-74688600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:74685800-74694600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:74685800-74694800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:74686000-74686600	Weak transcription	K562	blood
50	chr15:74686000-74687400	Weak transcription	Spleen	Spleen

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