Variant report

Variant	rs73400452
Chromosome Location	chr6:24909252-24909253
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	chr6:24905708..24907568-chr6:24908173..24910431,2	K562	blood:
2	chr6:24909068..24910634-chr6:24911078..24913760,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111913	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17839854	0.90[AFR][1000 genomes]
rs45617645	0.90[AFR][1000 genomes]
rs60985329	0.85[AFR][1000 genomes]
rs6913594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6914059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6936710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73398433	0.85[AFR][1000 genomes]
rs73398436	0.85[AFR][1000 genomes]
rs73398461	0.90[AFR][1000 genomes]
rs73398472	0.90[AFR][1000 genomes]
rs73398481	0.90[AFR][1000 genomes]
rs73400424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73400425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73400436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73400437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73400441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7758438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7773196	0.86[EUR][1000 genomes]
rs7773553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7776271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1019504	chr6:24869174-24994758	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24897400-24909600	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr6:24899800-24909600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:24900200-24909800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:24902200-24909400	Weak transcription	Left Ventricle	heart
5	chr6:24905000-24910800	Weak transcription	Aorta	Aorta
6	chr6:24905800-24909400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:24907000-24909400	Weak transcription	Ovary	ovary
8	chr6:24907000-24909400	Weak transcription	Psoas Muscle	Psoas
9	chr6:24907000-24909400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:24907600-24909400	Active TSS	Fetal Brain Female	brain
11	chr6:24907600-24909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:24907600-24909600	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr6:24907600-24910000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:24907600-24910000	Enhancers	Fetal Thymus	thymus
15	chr6:24907800-24909600	Enhancers	Small Intestine	intestine
16	chr6:24907800-24909800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:24907800-24910000	Enhancers	Fetal Stomach	stomach
18	chr6:24907800-24910400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:24907800-24911200	Flanking Active TSS	GM12878-XiMat	blood
20	chr6:24908000-24909400	Enhancers	Brain Hippocampus Middle	brain
21	chr6:24908000-24909600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr6:24908000-24910000	Enhancers	Thymus	Thymus
23	chr6:24908000-24910400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:24908000-24910800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:24908000-24911200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:24908000-24912200	Active TSS	HSMMtube	muscle
27	chr6:24908200-24909400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:24908200-24909600	Enhancers	Fetal Heart	heart
29	chr6:24908200-24909600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:24908200-24909600	Enhancers	Dnd41	blood
31	chr6:24908200-24909800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:24908200-24910800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr6:24908200-24911200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr6:24908200-24912600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:24908400-24909400	Weak transcription	Brain Substantia Nigra	brain
36	chr6:24908400-24909400	Enhancers	Duodenum Mucosa	Duodenum
37	chr6:24908400-24909400	Weak transcription	Lung	lung
38	chr6:24908400-24909600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:24908400-24909600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr6:24908400-24910000	Enhancers	Primary hematopoietic stem cells	blood
41	chr6:24908400-24910400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:24908400-24911000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr6:24908600-24909400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:24908600-24909400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr6:24908600-24909400	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:24908600-24910400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:24908600-24911000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:24908600-24913200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
49	chr6:24908600-24913600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
50	chr6:24908800-24909400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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