Variant report

Variant	rs74023499
Chromosome Location	chr15:74687747-74687748
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74687672..74690218-chr15:74730086..74732383,2	K562	blood:
2	chr15:74686172..74688047-chr15:74766042..74767580,2	K562	blood:
3	chr15:74687537..74689333-chr15:74700401..74702548,2	MCF-7	breast:
4	chr15:74673950..74692681-chr15:74720825..74732493,46	MCF-7	breast:
5	chr15:74681754..74686818-chr15:74686850..74691835,9	K562	blood:
6	chr15:74674020..74678319-chr15:74686843..74691927,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138623	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16968740	0.87[ASN][1000 genomes]
rs28362873	0.87[ASN][1000 genomes]
rs28362884	0.87[ASN][1000 genomes]
rs28362896	0.87[ASN][1000 genomes]
rs28362897	0.87[ASN][1000 genomes]
rs28362900	0.87[ASN][1000 genomes]
rs28362907	0.87[ASN][1000 genomes]
rs28362922	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28362929	0.95[AFR][1000 genomes]
rs3809542	0.84[AFR][1000 genomes]
rs41553712	0.84[AFR][1000 genomes]
rs56308802	0.84[AFR][1000 genomes]
rs59984854	1.00[AFR][1000 genomes]
rs60226645	0.84[AFR][1000 genomes]
rs60852398	0.81[AFR][1000 genomes]
rs74023491	0.84[AFR][1000 genomes]
rs74023494	0.89[AFR][1000 genomes]
rs74023496	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[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:64 , 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	chr15:74680600-74691800	Enhancers	Fetal Thymus	thymus
5	chr15:74681600-74695600	Enhancers	Primary B cells from peripheral blood	blood
6	chr15:74681800-74688800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:74682000-74688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:74682400-74687800	Weak transcription	Gastric	stomach
9	chr15:74682400-74687800	Weak transcription	Stomach Mucosa	stomach
10	chr15:74683600-74688000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr15:74683600-74688600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:74683800-74687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:74683800-74690200	Enhancers	Fetal Muscle Leg	muscle
14	chr15:74684000-74689000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr15:74684000-74690200	Enhancers	HSMMtube	muscle
16	chr15:74684200-74688800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr15:74684200-74689200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr15:74684600-74689200	Weak transcription	Lung	lung
19	chr15:74685000-74687800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:74685000-74688000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:74685000-74688600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:74685000-74688600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr15:74685000-74695000	Enhancers	HSMM	muscle
24	chr15:74685000-74695400	Weak transcription	Fetal Lung	lung
25	chr15:74685400-74688200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:74685400-74688800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:74685400-74694400	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:74685400-74699400	Weak transcription	Brain Substantia Nigra	brain
29	chr15:74685600-74688400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:74685800-74688400	Weak transcription	Brain Angular Gyrus	brain
31	chr15:74685800-74688600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:74685800-74694600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:74685800-74694800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:74686200-74688000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:74686400-74687800	Bivalent Enhancer	HepG2	liver
36	chr15:74686600-74689600	Enhancers	K562	blood
37	chr15:74686600-74690800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr15:74686600-74690800	Enhancers	NHLF	lung
39	chr15:74686600-74691400	Enhancers	NHDF-Ad	bronchial
40	chr15:74686600-74694400	Enhancers	Osteobl	bone
41	chr15:74686800-74688000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:74686800-74689400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr15:74686800-74690000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:74686800-74690800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:74686800-74691200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:74686800-74695200	Enhancers	Primary B cells from cord blood	blood
47	chr15:74687000-74689000	Enhancers	NHEK	skin
48	chr15:74687000-74689200	Weak transcription	Dnd41	blood
49	chr15:74687400-74688000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr15:74687400-74690600	Enhancers	Spleen	Spleen

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