Variant report

Variant	rs147795457
Chromosome Location	chr4:119756319-119756320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119755459..119757778-chr4:120132797..120135484,2	K562	blood:
2	chr4:119689368..119690979-chr4:119755279..119757567,2	MCF-7	breast:
3	chr4:119755941..119757728-chr4:119758590..119760561,2	MCF-7	breast:
4	chr4:119751011..119752990-chr4:119754858..119757253,2	K562	blood:
5	chr4:119744784..119747209-chr4:119754094..119757158,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178636	Chromatin interaction
ENSG00000150961	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3377040	chr4:119756129-119758677	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119754200-119756400	Weak transcription	Spleen	Spleen
2	chr4:119754200-119757400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:119755000-119756400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:119755000-119757800	Active TSS	NHLF	lung
5	chr4:119755000-119758200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr4:119755200-119758200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:119755200-119758200	Active TSS	Aorta	Aorta
8	chr4:119755400-119756800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:119755400-119757800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:119755400-119757800	Active TSS	NH-A	brain
11	chr4:119755400-119758000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:119755400-119758200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr4:119755400-119758200	Active TSS	HSMMtube	muscle
14	chr4:119755400-119758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:119755600-119757800	Active TSS	GM12878-XiMat	blood
16	chr4:119755600-119757800	Active TSS	Osteobl	bone
17	chr4:119755600-119758000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:119755600-119758000	Active TSS	NHDF-Ad	bronchial
19	chr4:119755600-119758400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:119755600-119758400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:119755800-119756400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:119755800-119756400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr4:119755800-119756400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:119755800-119756400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr4:119755800-119756400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:119755800-119756400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:119755800-119756400	Flanking Active TSS	NHEK	skin
28	chr4:119755800-119756600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:119755800-119756600	Flanking Active TSS	Dnd41	blood
30	chr4:119755800-119757400	Active TSS	HepG2	liver
31	chr4:119755800-119757600	Active TSS	Duodenum Mucosa	Duodenum
32	chr4:119755800-119757800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr4:119755800-119757800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr4:119755800-119757800	Active TSS	Fetal Muscle Leg	muscle
35	chr4:119755800-119757800	Active TSS	Fetal Stomach	stomach
36	chr4:119755800-119757800	Active TSS	K562	blood
37	chr4:119755800-119758000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:119755800-119758200	Active TSS	Colonic Mucosa	Colon
39	chr4:119755800-119758200	Active TSS	Fetal Muscle Trunk	muscle
40	chr4:119755800-119758200	Active TSS	Right Atrium	heart
41	chr4:119755800-119758200	Active TSS	Right Ventricle	heart
42	chr4:119756000-119756400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:119756000-119756400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:119756000-119756400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr4:119756000-119756400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr4:119756000-119756600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr4:119756000-119756600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr4:119756000-119756600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr4:119756000-119756600	Flanking Active TSS	Thymus	Thymus
50	chr4:119756000-119756800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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