Variant report

Variant	rs540524297
Chromosome Location	chr4:119273101-119273102
allele	A/T
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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119267400-119273200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:119271600-119273200	Bivalent/Poised TSS	Fetal Brain Male	brain
3	chr4:119271600-119274200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:119271600-119274400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:119271600-119275000	Active TSS	NHLF	lung
6	chr4:119271800-119274200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:119271800-119274200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr4:119271800-119274600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:119271800-119274600	Active TSS	Osteobl	bone
10	chr4:119272200-119273400	Bivalent Enhancer	HUVEC	blood vessel
11	chr4:119272200-119274600	Active TSS	NHDF-Ad	bronchial
12	chr4:119272400-119274400	Active TSS	Muscle Satellite Cultured Cells	--
13	chr4:119272400-119274400	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr4:119272600-119273200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:119272600-119274400	Active TSS	Stomach Mucosa	stomach
16	chr4:119272800-119273200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr4:119272800-119273200	Active TSS	Colonic Mucosa	Colon
18	chr4:119272800-119273200	Flanking Active TSS	Fetal Lung	lung
19	chr4:119272800-119273200	Flanking Active TSS	NHEK	skin
20	chr4:119272800-119273400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:119272800-119273400	Enhancers	Liver	Liver
22	chr4:119272800-119273600	Flanking Active TSS	HMEC	breast
23	chr4:119272800-119274400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr4:119272800-119274800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:119272800-119275000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr4:119273000-119273200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr4:119273000-119273200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr4:119273000-119273200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:119273000-119273200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:119273000-119273200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr4:119273000-119273200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr4:119273000-119273200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr4:119273000-119273200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:119273000-119273200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:119273000-119273200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:119273000-119273200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr4:119273000-119273200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr4:119273000-119273200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:119273000-119273200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:119273000-119273200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
41	chr4:119273000-119273200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:119273000-119273200	Flanking Active TSS	Esophagus	oesophagus
43	chr4:119273000-119273200	Bivalent/Poised TSS	Fetal Kidney	kidney
44	chr4:119273000-119273200	Bivalent Enhancer	Placenta	Placenta
45	chr4:119273000-119273200	Flanking Active TSS	Gastric	stomach
46	chr4:119273000-119273200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr4:119273000-119273400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr4:119273000-119273400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:119273000-119273400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:119273000-119273400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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