Variant report

Variant	rs200046650
Chromosome Location	chr4:79860208-79860209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76603369..76604011-chr4:79859804..79860621,2	Hela-S3	cervix:
2	chr4:79471198..79473938-chr4:79857809..79860687,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138772	Chromatin interaction
ENSG00000140374	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	nsv879504	chr4:79759796-79874275	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	7 gene(s)	inside rSNPs	diseases
2	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
3	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3392523	chr4:79859553-79862101	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	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	chr4:79859000-79860400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:79859000-79860800	Active TSS	GM12878-XiMat	blood
3	chr4:79859200-79861000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr4:79859200-79861000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:79859200-79861200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr4:79859200-79861200	Active TSS	NHLF	lung
7	chr4:79859200-79861400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:79859200-79861400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:79859400-79860800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:79859400-79860800	Active TSS	Brain Angular Gyrus	brain
11	chr4:79859400-79860800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr4:79859400-79861000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:79859400-79861000	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr4:79859400-79861000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:79859400-79861000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:79859400-79861000	Active TSS	Duodenum Mucosa	Duodenum
17	chr4:79859400-79861200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:79859400-79861200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:79859400-79861200	Active TSS	Brain Substantia Nigra	brain
20	chr4:79859400-79861200	Active TSS	Hela-S3	cervix
21	chr4:79859400-79861400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:79859400-79861400	Active TSS	Fetal Brain Female	brain
23	chr4:79859400-79861400	Active TSS	NHDF-Ad	bronchial
24	chr4:79859400-79861600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:79859400-79861600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:79859600-79860400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr4:79859600-79860400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr4:79859600-79860400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr4:79859600-79860400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr4:79859600-79860800	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr4:79859600-79860800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr4:79859600-79861000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:79859600-79861000	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr4:79859600-79861000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:79859600-79861000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:79859600-79861200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr4:79859600-79861200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:79859600-79861200	Active TSS	Aorta	Aorta
39	chr4:79859600-79861200	Active TSS	Colonic Mucosa	Colon
40	chr4:79859600-79861200	Active TSS	Fetal Muscle Trunk	muscle
41	chr4:79859600-79861200	Active TSS	Ovary	ovary
42	chr4:79859600-79861200	Active TSS	Psoas Muscle	Psoas
43	chr4:79859600-79861200	Active TSS	Right Atrium	heart
44	chr4:79859600-79861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:79859600-79861400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:79859600-79861400	Active TSS	Fetal Brain Male	brain
47	chr4:79859600-79861400	Active TSS	Thymus	Thymus
48	chr4:79859800-79860400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr4:79859800-79860400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr4:79859800-79860400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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