Variant report

Variant	esv3401605
Chromosome Location	chr9:140431180-140431497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140431100..140433802-chr9:140474645..140476543,2	K562	blood:
2	chr9:140428151..140432406-chr9:140438574..140446219,7	MCF-7	breast:
3	chr9:140427985..140429515-chr9:140431192..140432744,2	K562	blood:
4	chr9:140430080..140431601-chr9:140437966..140440152,2	MCF-7	breast:
5	chr9:140133452..140136441-chr9:140429193..140431357,3	K562	blood:
6	chr9:140431446..140433853-chr9:140437572..140440429,3	K562	blood:
7	chr9:140430947..140433586-chr9:140435095..140437160,2	K562	blood:
8	chr9:140428399..140433224-chr9:140435780..140438128,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263933	chromatin interactions
ENSG00000130653	chromatin interactions
ENSG00000182154	chromatin interactions
ENSG00000188229	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369808111	chr9:140431185-140431186	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs558431515	chr9:140431203-140431204	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs146080467	chr9:140431211-140431212	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs11793453	chr9:140431221-140431222	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182080821	chr9:140431278-140431279	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs111767000	chr9:140431292-140431293	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs36075912	chr9:140431327-140431328	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs554502157	chr9:140431345-140431346	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs112692818	chr9:140431386-140431387	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs574548747	chr9:140431403-140431404	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs375797283	chr9:140431409-140431410	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs2480113	chr9:140431457-140431458	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs186444984	chr9:140431466-140431467	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs577314399	chr9:140431470-140431471	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140376800-140444000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:140377000-140437000	Weak transcription	Left Ventricle	heart
3	chr9:140408600-140444400	Weak transcription	Esophagus	oesophagus
4	chr9:140411200-140444200	Weak transcription	Right Atrium	heart
5	chr9:140414600-140438400	Weak transcription	Colonic Mucosa	Colon
6	chr9:140426400-140435800	Weak transcription	HSMMtube	muscle
7	chr9:140429400-140432000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:140429400-140434600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:140429400-140434600	Weak transcription	Lung	lung
10	chr9:140429600-140432000	Weak transcription	Right Ventricle	heart
11	chr9:140429600-140432400	Weak transcription	Aorta	Aorta
12	chr9:140429600-140432400	Weak transcription	Pancreas	Pancrea
13	chr9:140429600-140434800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:140429600-140437000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:140429600-140443400	Weak transcription	Brain Germinal Matrix	brain
16	chr9:140429600-140444400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:140429800-140431200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr9:140429800-140431200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr9:140429800-140431200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:140429800-140431200	Weak transcription	Fetal Intestine Small	intestine
21	chr9:140429800-140431200	Weak transcription	K562	blood
22	chr9:140429800-140431400	Weak transcription	Primary B cells from cord blood	blood
23	chr9:140429800-140432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:140429800-140432000	Weak transcription	Adipose Nuclei	Adipose
25	chr9:140429800-140432200	Weak transcription	Brain Anterior Caudate	brain
26	chr9:140429800-140432200	Weak transcription	Brain Substantia Nigra	brain
27	chr9:140429800-140433400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:140429800-140434400	Weak transcription	Ovary	ovary
29	chr9:140429800-140434600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:140429800-140434600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:140429800-140434600	Weak transcription	Gastric	stomach
32	chr9:140429800-140434600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr9:140429800-140435000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:140429800-140435200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:140429800-140435400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:140429800-140435800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr9:140429800-140436000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:140429800-140436200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:140429800-140437200	Weak transcription	Brain Angular Gyrus	brain
40	chr9:140429800-140437200	Weak transcription	Brain Hippocampus Middle	brain
41	chr9:140429800-140438400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:140429800-140438600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:140429800-140438600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:140429800-140441400	Weak transcription	Thymus	Thymus
45	chr9:140429800-140443200	Weak transcription	Stomach Mucosa	stomach
46	chr9:140429800-140444200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr9:140429800-140444200	Weak transcription	Colon Smooth Muscle	Colon
48	chr9:140429800-140444200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:140429800-140444200	Weak transcription	Fetal Lung	lung
50	chr9:140429800-140444200	Weak transcription	Rectal Smooth Muscle	rectum

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