Variant report

Variant	rs528844311
Chromosome Location	chr4:56914824-56914825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56732780..56733548-chr4:56914397..56915335,2	K562	blood:
2	chr4:56914423..56917343-chr4:56954991..56956586,2	MCF-7	breast:
3	chr4:56902751..56905676-chr4:56913962..56916198,3	MCF-7	breast:
4	chr4:56912197..56914161-chr4:56914438..56916191,2	MCF-7	breast:
5	chr4:56814506..56815307-chr4:56914802..56915691,3	K562	blood:
6	chr4:56910116..56913071-chr4:56914589..56916091,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174799	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3378090	chr4:56914220-56916768	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56914000-56916800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr4:56914000-56917000	Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr4:56914000-56917200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:56914200-56917000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:56914200-56917200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:56914200-56917400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:56914400-56915000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr4:56914400-56915000	Flanking Active TSS	Fetal Brain Male	brain
9	chr4:56914400-56915200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr4:56914400-56915200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:56914400-56915200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:56914400-56915200	Flanking Active TSS	HUVEC	blood vessel
13	chr4:56914400-56917000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr4:56914400-56917200	Active TSS	Brain Substantia Nigra	brain
15	chr4:56914400-56917400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:56914400-56917800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:56914600-56915000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:56914600-56915000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr4:56914600-56915000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:56914600-56915000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
21	chr4:56914600-56915000	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr4:56914600-56915000	Active TSS	Fetal Muscle Leg	muscle
23	chr4:56914600-56915000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr4:56914600-56915000	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr4:56914600-56915000	Flanking Bivalent TSS/Enh	Osteobl	bone
26	chr4:56914600-56915200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
27	chr4:56914600-56915200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:56914600-56915200	Active TSS	Right Atrium	heart
29	chr4:56914600-56915200	Flanking Active TSS	GM12878-XiMat	blood
30	chr4:56914600-56915200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr4:56914600-56915200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
32	chr4:56914600-56915400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
33	chr4:56914600-56915600	Active TSS	Brain Germinal Matrix	brain
34	chr4:56914600-56915800	Active TSS	Brain Cingulate Gyrus	brain
35	chr4:56914600-56915800	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr4:56914600-56916200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:56914600-56916400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr4:56914600-56916400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:56914600-56916600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:56914600-56916600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:56914600-56916600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr4:56914600-56916600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:56914600-56916600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:56914600-56916600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:56914600-56916600	Active TSS	Brain Angular Gyrus	brain
46	chr4:56914600-56916600	Active TSS	Brain Anterior Caudate	brain
47	chr4:56914600-56916600	Active TSS	Brain Hippocampus Middle	brain
48	chr4:56914600-56916600	Active TSS	Rectal Smooth Muscle	rectum
49	chr4:56914600-56916600	Active TSS	NHLF	lung
50	chr4:56914600-56916800	Active TSS	Ovary	ovary

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