Variant report

Variant	rs72778453
Chromosome Location	chr10:5338498-5338499
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	chr10:5338258..5343485-chr10:5345968..5350797,5	K562	blood:

Variant related genes	Relation type
ENSG00000223987	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12413671	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12415284	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12416300	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17134740	0.89[ASN][1000 genomes]
rs17134748	0.98[ASN][1000 genomes]
rs17134750	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17399879	0.90[EUR][1000 genomes]
rs4609510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4881430	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4881432	0.87[EUR][1000 genomes]
rs72778450	0.90[EUR][1000 genomes]
rs72778452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72778460	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72778462	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7475343	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers 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	68 gene(s)	inside rSNPs	diseases
3	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv466715	chr10:5285597-5348491	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv466717	chr10:5285597-5348491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv549888	chr10:5285597-5348491	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv894795	chr10:5286600-5348491	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv894796	chr10:5300976-5348491	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5334200-5338800	Weak transcription	HSMM	muscle
2	chr10:5334400-5338600	Weak transcription	HSMMtube	muscle
3	chr10:5334400-5338800	Weak transcription	Small Intestine	intestine
4	chr10:5334400-5340400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:5334600-5339400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr10:5335000-5338600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr10:5335200-5339400	Weak transcription	Hela-S3	cervix
8	chr10:5336000-5339800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr10:5336000-5340000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr10:5336200-5340600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr10:5336400-5338800	Weak transcription	Lung	lung
12	chr10:5336400-5339000	Weak transcription	NHDF-Ad	bronchial
13	chr10:5336400-5339200	Weak transcription	Thymus	Thymus
14	chr10:5336400-5339800	Weak transcription	Right Atrium	heart
15	chr10:5336400-5341000	Weak transcription	Gastric	stomach
16	chr10:5336400-5341600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:5336400-5342800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:5336400-5344800	Weak transcription	Esophagus	oesophagus
19	chr10:5336400-5347600	Weak transcription	Pancreas	Pancrea
20	chr10:5336600-5338600	Weak transcription	Right Ventricle	heart
21	chr10:5336600-5338800	Weak transcription	Fetal Thymus	thymus
22	chr10:5336600-5339400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr10:5336600-5339400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:5336600-5339600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr10:5336600-5339600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:5336600-5339600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:5336600-5340200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr10:5336600-5340600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:5336600-5341000	Weak transcription	Stomach Mucosa	stomach
30	chr10:5336600-5341600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr10:5336600-5341600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr10:5336600-5342800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:5336600-5342800	Weak transcription	HMEC	breast
34	chr10:5336800-5341600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr10:5337000-5338800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr10:5337000-5339400	Enhancers	Left Ventricle	heart
37	chr10:5337400-5339000	Enhancers	Psoas Muscle	Psoas
38	chr10:5337400-5340000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:5337400-5340400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:5337600-5339800	Enhancers	Primary T cells from cord blood	blood
41	chr10:5337600-5340600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr10:5337800-5338800	Enhancers	Primary B cells from cord blood	blood
43	chr10:5338000-5338800	Genic enhancers	Dnd41	blood
44	chr10:5338200-5338600	Weak transcription	Adipose Nuclei	Adipose
45	chr10:5338200-5339000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr10:5338200-5339400	Weak transcription	K562	blood
47	chr10:5338200-5340200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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