Variant report

Variant	rs530875
Chromosome Location	chr4:56289779-56289780
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	chr4:56283281..56286016-chr4:56289433..56292166,2	K562	blood:
2	chr4:56211622..56213741-chr4:56288738..56291622,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134851	Chromatin interaction
ENSG00000128039	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11727586	0.82[EUR][1000 genomes]
rs471546	0.94[EUR][1000 genomes]
rs480531	0.83[EUR][1000 genomes]
rs491381	0.91[EUR][1000 genomes]
rs504836	0.89[EUR][1000 genomes]
rs505861	0.89[EUR][1000 genomes]
rs532768	0.95[EUR][1000 genomes]
rs534654	0.95[EUR][1000 genomes]
rs549564	0.95[EUR][1000 genomes]
rs566240	0.92[EUR][1000 genomes]
rs711533	0.95[EUR][1000 genomes]
rs73236137	0.92[EUR][1000 genomes]
rs7669259	0.89[EUR][1000 genomes]
rs7692795	0.91[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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1011722	chr4:56261349-56325600	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56264800-56292200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56265600-56289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:56265600-56319800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:56268800-56326000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:56269000-56311400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:56274600-56332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:56275600-56292400	Weak transcription	Stomach Mucosa	stomach
8	chr4:56275800-56300000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:56275800-56302200	Strong transcription	Fetal Thymus	thymus
10	chr4:56276000-56302400	Strong transcription	Dnd41	blood
11	chr4:56276000-56320000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:56276200-56292400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:56276200-56296800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:56276200-56304400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:56276200-56310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:56276400-56297800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:56276600-56296400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:56276600-56303400	Strong transcription	Osteobl	bone
19	chr4:56276600-56305000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr4:56277000-56292600	Weak transcription	Fetal Heart	heart
21	chr4:56277000-56296800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:56277400-56302400	Strong transcription	HSMM	muscle
23	chr4:56277400-56306000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:56277600-56301800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:56277600-56305000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:56277800-56290800	Strong transcription	Fetal Stomach	stomach
27	chr4:56277800-56293200	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr4:56277800-56302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:56278200-56301000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:56279000-56290800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:56279000-56293000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr4:56279000-56294800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:56279000-56300200	Strong transcription	HUVEC	blood vessel
34	chr4:56279000-56321800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:56279200-56296200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr4:56279400-56290800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:56279600-56291000	Strong transcription	Fetal Brain Female	brain
38	chr4:56280000-56304800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:56280200-56292000	Strong transcription	Fetal Intestine Large	intestine
40	chr4:56280200-56296400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:56280400-56301000	Strong transcription	GM12878-XiMat	blood
42	chr4:56280600-56291200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:56280600-56292600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:56280600-56294800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:56280600-56296200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:56280600-56300000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr4:56280600-56301400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:56280600-56302000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:56280600-56302200	Strong transcription	Primary B cells from cord blood	blood
50	chr4:56280600-56303400	Strong transcription	Duodenum Mucosa	Duodenum

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