Variant report

Variant	rs12338382
Chromosome Location	chr9:72747809-72747810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11141382	1.00[EUR][1000 genomes]
rs7024201	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72722000-72758400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:72725800-72764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:72726200-72749200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:72728200-72752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:72728200-72758400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:72731200-72768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:72733800-72748400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:72736200-72748800	Weak transcription	Fetal Brain Female	brain
11	chr9:72736200-72761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:72737000-72748000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr9:72738200-72750400	Weak transcription	Fetal Intestine Small	intestine
14	chr9:72739000-72749000	Weak transcription	Gastric	stomach
15	chr9:72740400-72750000	Weak transcription	NH-A	brain
16	chr9:72740600-72766400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:72741000-72758600	Weak transcription	Colonic Mucosa	Colon
18	chr9:72741400-72765600	Weak transcription	Esophagus	oesophagus
19	chr9:72741600-72749400	Weak transcription	Fetal Stomach	stomach
20	chr9:72741600-72751600	Weak transcription	NHLF	lung
21	chr9:72741600-72755000	Weak transcription	Left Ventricle	heart
22	chr9:72741600-72757400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:72741600-72775400	Weak transcription	Adipose Nuclei	Adipose
24	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
25	chr9:72742400-72748200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:72742800-72748800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:72743000-72754800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:72743400-72748000	Weak transcription	Osteobl	bone
29	chr9:72743400-72748200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:72743400-72748200	Weak transcription	Aorta	Aorta
31	chr9:72743400-72748400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:72744000-72748000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:72745600-72748200	Weak transcription	Colon Smooth Muscle	Colon
34	chr9:72745600-72748200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:72745600-72749600	Weak transcription	Lung	lung
36	chr9:72745800-72748200	Weak transcription	Ovary	ovary
37	chr9:72746200-72748200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:72746200-72749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:72746200-72755000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:72746600-72748000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:72746600-72748000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:72746600-72748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:72746600-72748200	Weak transcription	HSMMtube	muscle
44	chr9:72746600-72750600	Weak transcription	HMEC	breast
45	chr9:72746600-72762600	Weak transcription	Psoas Muscle	Psoas
46	chr9:72746800-72748400	Weak transcription	Fetal Heart	heart
47	chr9:72746800-72750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:72746800-72750200	Weak transcription	NHEK	skin
49	chr9:72746800-72750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:72747000-72748000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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