Variant report

Variant	rs548349152
Chromosome Location	chr4:119273494-119273495
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119199765..119204001-chr4:119271592..119273818,4	K562	blood:
2	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:
3	chr4:119199692..119204423-chr4:119272219..119275323,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269893	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482277	chr4:119261543-119408886	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv461631	chr4:119261939-119308603	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv595331	chr4:119261939-119308603	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3440556	chr4:119272654-119275202	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119271600-119274200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:119271600-119274400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:119271600-119275000	Active TSS	NHLF	lung
4	chr4:119271800-119274200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:119271800-119274200	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr4:119271800-119274600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:119271800-119274600	Active TSS	Osteobl	bone
8	chr4:119272200-119274600	Active TSS	NHDF-Ad	bronchial
9	chr4:119272400-119274400	Active TSS	Muscle Satellite Cultured Cells	--
10	chr4:119272400-119274400	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr4:119272600-119274400	Active TSS	Stomach Mucosa	stomach
12	chr4:119272800-119273600	Flanking Active TSS	HMEC	breast
13	chr4:119272800-119274400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:119272800-119274800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:119272800-119275000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:119273000-119273600	Flanking Active TSS	Pancreas	Pancrea
17	chr4:119273000-119273600	Bivalent/Poised TSS	Small Intestine	intestine
18	chr4:119273000-119274400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr4:119273000-119274400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr4:119273000-119274400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:119273000-119274400	Bivalent/Poised TSS	Fetal Stomach	stomach
22	chr4:119273000-119274400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr4:119273000-119274400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
24	chr4:119273000-119274400	Active TSS	NH-A	brain
25	chr4:119273000-119274600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:119273000-119274600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:119273000-119274600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:119273000-119274800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr4:119273000-119274800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr4:119273000-119274800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr4:119273000-119275000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr4:119273200-119273600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:119273200-119273600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr4:119273200-119273600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
35	chr4:119273200-119273600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr4:119273200-119273600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:119273200-119273600	Flanking Bivalent TSS/Enh	Placenta	Placenta
38	chr4:119273200-119273800	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr4:119273200-119273800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr4:119273200-119273800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:119273200-119273800	Bivalent Enhancer	Fetal Thymus	thymus
42	chr4:119273200-119274000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:119273200-119274000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:119273200-119274000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr4:119273200-119274200	Enhancers	Primary B cells from peripheral blood	blood
46	chr4:119273200-119274400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr4:119273200-119274400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr4:119273200-119274400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:119273200-119274400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr4:119273200-119274400	Active TSS	Fetal Lung	lung

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