Variant report

Variant	rs551040378
Chromosome Location	chr9:116817316-116817317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116810230..116814286-chr9:116816230..116818443,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	nsv466514	chr9:116810890-116867054	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv615222	chr9:116810890-116867054	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
6	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
7	nsv466515	chr9:116814661-116867054	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv615223	chr9:116814661-116867054	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv528822	chr9:116815777-116867054	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv466516	chr9:116815777-116867054	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv466518	chr9:116815777-116867054	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	4 gene(s)	inside rSNPs	diseases
12	nsv466519	chr9:116815777-116867054	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv466520	chr9:116815777-116867054	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv466521	chr9:116815777-116867054	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS 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	4 gene(s)	inside rSNPs	diseases
15	nsv466522	chr9:116815777-116867054	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv466523	chr9:116815777-116867054	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv471319	chr9:116815777-116867054	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv615224	chr9:116815777-116867054	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116795200-116821800	Weak transcription	Right Atrium	heart
2	chr9:116808600-116817600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:116809400-116818800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:116809800-116817600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:116809800-116821600	Strong transcription	Fetal Stomach	stomach
6	chr9:116809800-116822000	Strong transcription	Fetal Intestine Small	intestine
7	chr9:116810000-116817600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr9:116811400-116822000	Weak transcription	Fetal Kidney	kidney
9	chr9:116811800-116819800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:116812000-116821400	Weak transcription	Left Ventricle	heart
11	chr9:116812000-116821400	Weak transcription	NHDF-Ad	bronchial
12	chr9:116812000-116821600	Weak transcription	Brain Angular Gyrus	brain
13	chr9:116812000-116824200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:116812200-116817600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:116812200-116819600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:116812200-116820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:116812200-116821400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:116812200-116824600	Weak transcription	Colonic Mucosa	Colon
19	chr9:116812200-116824800	Weak transcription	Right Ventricle	heart
20	chr9:116812200-116827400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:116812400-116817400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:116812400-116821200	Weak transcription	HSMM	muscle
23	chr9:116812400-116821400	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:116812400-116824400	Weak transcription	Stomach Mucosa	stomach
25	chr9:116812600-116818200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:116812600-116821600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:116812800-116821800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:116812800-116824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr9:116813000-116817600	Weak transcription	Thymus	Thymus
30	chr9:116813000-116820800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:116813000-116821000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr9:116813000-116821400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr9:116813000-116822000	Weak transcription	Brain Substantia Nigra	brain
34	chr9:116813200-116823000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:116813200-116823600	Weak transcription	Esophagus	oesophagus
36	chr9:116813800-116821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:116813800-116824600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr9:116814000-116819400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:116814000-116821000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr9:116814200-116819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:116814200-116822400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:116814200-116824600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr9:116814400-116817600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:116814400-116818800	Weak transcription	NH-A	brain
45	chr9:116814400-116822400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:116814600-116821800	Weak transcription	Brain Anterior Caudate	brain
47	chr9:116814600-116824400	Weak transcription	A549	lung
48	chr9:116814800-116819000	Weak transcription	Spleen	Spleen
49	chr9:116814800-116819600	Weak transcription	HSMMtube	muscle
50	chr9:116814800-116823000	Weak transcription	Primary hematopoietic stem cells	blood

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