Variant report

Variant	rs543692077
Chromosome Location	chr4:56915519-56915520
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56914879..56917642-chr4:56927334..56929102,2	MCF-7	breast:
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:
7	chr4:56906651..56909346-chr4:56915136..56917400,3	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:120 , 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	chr4:56914400-56917000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr4:56914400-56917200	Active TSS	Brain Substantia Nigra	brain
9	chr4:56914400-56917400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr4:56914400-56917800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:56914600-56915600	Active TSS	Brain Germinal Matrix	brain
12	chr4:56914600-56915800	Active TSS	Brain Cingulate Gyrus	brain
13	chr4:56914600-56915800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr4:56914600-56916200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:56914600-56916400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr4:56914600-56916400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:56914600-56916600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:56914600-56916600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:56914600-56916600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr4:56914600-56916600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:56914600-56916600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:56914600-56916600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:56914600-56916600	Active TSS	Brain Angular Gyrus	brain
24	chr4:56914600-56916600	Active TSS	Brain Anterior Caudate	brain
25	chr4:56914600-56916600	Active TSS	Brain Hippocampus Middle	brain
26	chr4:56914600-56916600	Active TSS	Rectal Smooth Muscle	rectum
27	chr4:56914600-56916600	Active TSS	NHLF	lung
28	chr4:56914600-56916800	Active TSS	Ovary	ovary
29	chr4:56914600-56917000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:56914600-56917000	Active TSS	Fetal Intestine Large	intestine
31	chr4:56914600-56917000	Active TSS	Fetal Kidney	kidney
32	chr4:56914800-56915800	Flanking Active TSS	Liver	Liver
33	chr4:56914800-56915800	Bivalent/Poised TSS	Left Ventricle	heart
34	chr4:56914800-56915800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr4:56914800-56916000	Active TSS	Small Intestine	intestine
36	chr4:56914800-56916200	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr4:56914800-56916200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:56914800-56916200	Active TSS	Aorta	Aorta
39	chr4:56914800-56916200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
40	chr4:56914800-56916200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr4:56914800-56916200	Active TSS	Fetal Lung	lung
42	chr4:56914800-56916400	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr4:56914800-56916400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr4:56914800-56916400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr4:56914800-56916600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:56914800-56916600	Bivalent/Poised TSS	A549	lung
47	chr4:56914800-56916600	Active TSS	HSMMtube	muscle
48	chr4:56914800-56916800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr4:56914800-56917000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr4:56914800-56917200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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