Variant report

Variant	rs72549293
Chromosome Location	chr4:55575593-55575594
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	chr4:55567098..55569303-chr4:55573075..55575854,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10452281	0.95[AFR][1000 genomes]
rs72549288	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1003338	chr4:55566703-55582342	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1012346	chr4:55571312-55584101	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv275029	chr4:55571761-55582463	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1010844	chr4:55573693-55587972	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv997954	chr4:55575003-55587787	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:55557800-55594000	Weak transcription	Aorta	Aorta
3	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:55562000-55577200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:55565000-55576000	Weak transcription	Ovary	ovary
7	chr4:55565600-55592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:55566200-55589600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:55567800-55587200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:55570400-55578600	Weak transcription	Fetal Brain Male	brain
11	chr4:55571000-55580000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:55572200-55576000	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:55573200-55576200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:55573200-55576600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:55573400-55576400	Genic enhancers	Primary hematopoietic stem cells	blood
16	chr4:55573400-55576600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:55573600-55576400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:55573600-55577400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:55573600-55577400	Enhancers	Fetal Thymus	thymus
20	chr4:55573600-55583200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:55573800-55577600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:55574200-55576000	Enhancers	Gastric	stomach
23	chr4:55574200-55576200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:55574200-55576400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:55574200-55579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:55574400-55578200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:55574600-55575600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:55574600-55576600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr4:55574800-55576000	Weak transcription	Right Atrium	heart
30	chr4:55575000-55575800	Enhancers	GM12878-XiMat	blood
31	chr4:55575000-55593600	Weak transcription	NHDF-Ad	bronchial
32	chr4:55575200-55575600	Weak transcription	Fetal Stomach	stomach
33	chr4:55575200-55575600	Active TSS	Thymus	Thymus
34	chr4:55575200-55575800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:55575200-55576200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:55575200-55576200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:55575200-55576200	Weak transcription	Lung	lung
38	chr4:55575200-55576200	Weak transcription	Pancreas	Pancrea
39	chr4:55575200-55576200	Weak transcription	Spleen	Spleen
40	chr4:55575400-55575800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:55575400-55575800	Active TSS	Primary B cells from cord blood	blood
42	chr4:55575400-55575800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:55575400-55575800	Enhancers	HUVEC	blood vessel
44	chr4:55575400-55576400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr4:55575400-55576400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
46	chr4:55575400-55576400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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