Variant report

Variant	rs200072366
Chromosome Location	chr9:104499677-104499678
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104493214..104495968-chr9:104498085..104500159,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1046590	chr9:104450624-104848588	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1046614	chr9:104492314-104686326	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1054992	chr9:104494816-104771134	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1043967	chr9:104498664-104636328	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104497800-104500000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:104497800-104501200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr9:104499000-104500200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr9:104499000-104501200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
5	chr9:104499200-104501000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
6	chr9:104499200-104501000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
7	chr9:104499400-104500000	Enhancers	Pancreas	Pancrea
8	chr9:104499400-104500200	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr9:104499400-104500200	Flanking Active TSS	Ovary	ovary
10	chr9:104499400-104500400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
11	chr9:104499400-104500600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
12	chr9:104499400-104500600	Bivalent Enhancer	Fetal Brain Male	brain
13	chr9:104499400-104501000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr9:104499400-104501600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr9:104499600-104499800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr9:104499600-104499800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr9:104499600-104499800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:104499600-104499800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:104499600-104499800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
20	chr9:104499600-104499800	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
21	chr9:104499600-104499800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
22	chr9:104499600-104499800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr9:104499600-104499800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr9:104499600-104499800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
25	chr9:104499600-104499800	Bivalent Enhancer	Psoas Muscle	Psoas
26	chr9:104499600-104499800	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
27	chr9:104499600-104499800	Flanking Active TSS	Right Atrium	heart
28	chr9:104499600-104499800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr9:104499600-104500000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:104499600-104500000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr9:104499600-104500000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:104499600-104500000	Bivalent Enhancer	Fetal Heart	heart
33	chr9:104499600-104500000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr9:104499600-104500200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:104499600-104500200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:104499600-104500200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:104499600-104500200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr9:104499600-104500200	Enhancers	Liver	Liver
39	chr9:104499600-104500200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
40	chr9:104499600-104500200	Bivalent Enhancer	Esophagus	oesophagus
41	chr9:104499600-104500200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr9:104499600-104500200	Enhancers	Gastric	stomach
43	chr9:104499600-104500400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
44	chr9:104499600-104500400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr9:104499600-104500600	Bivalent Enhancer	Lung	lung
46	chr9:104499600-104500600	Bivalent Enhancer	Spleen	Spleen
47	chr9:104499600-104501000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr9:104499600-104501000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
49	chr9:104499600-104501200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
50	chr9:104499600-104501200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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