Variant report

Variant	esv3353941
Chromosome Location	chr9:140428082-140428999
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140427835..140429829-chr9:140435567..140437956,2	MCF-7	breast:
2	chr9:140428683..140431076-chr9:140437788..140439883,2	K562	blood:
3	chr9:140428151..140432406-chr9:140438574..140446219,7	MCF-7	breast:
4	chr9:140196288..140198900-chr9:140428993..140430917,2	K562	blood:
5	chr9:140428693..140430574-chr9:140440838..140442352,2	MCF-7	breast:
6	chr9:140428970..140429596-chr9:140445585..140446090,2	MCF-7	breast:
7	chr9:140352534..140355006-chr9:140428668..140431073,2	MCF-7	breast:
8	chr9:140428399..140433224-chr9:140435780..140438128,4	MCF-7	breast:
9	chr9:140420711..140423726-chr9:140426984..140429291,3	K562	blood:
10	chr9:140427985..140429515-chr9:140431192..140432744,2	K562	blood:
11	chr9:140426937..140428831-chr9:140509967..140512178,2	K562	blood:
12	chr9:140426992..140430139-chr9:140444541..140447373,3	MCF-7	breast:
13	chr9:140427918..140430895-chr9:140433135..140434802,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198435	chromatin interactions
ENSG00000165802	chromatin interactions
ENSG00000130653	chromatin interactions
ENSG00000263933	chromatin interactions
ENSG00000182154	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11137427	chr9:140428114-140428115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112568262	chr9:140428137-140428138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557199659	chr9:140428141-140428142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186080914	chr9:140428156-140428157	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs543160993	chr9:140428207-140428208	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs553287022	chr9:140428238-140428239	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs190613555	chr9:140428262-140428263	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs540751763	chr9:140428278-140428279	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs113376841	chr9:140428295-140428296	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs180963725	chr9:140428306-140428307	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs375097256	chr9:140428343-140428344	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543754587	chr9:140428363-140428364	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs563534091	chr9:140428378-140428379	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs529079718	chr9:140428403-140428404	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549202708	chr9:140428435-140428436	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs369608287	chr9:140428455-140428456	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs565722886	chr9:140428483-140428484	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs528614774	chr9:140428510-140428511	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs200508414	chr9:140428532-140428533	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs143462350	chr9:140428541-140428542	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs147974875	chr9:140428574-140428575	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs557236361	chr9:140428628-140428629	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs201740370	chr9:140428644-140428645	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs550197941	chr9:140428660-140428661	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567997561	chr9:140428673-140428674	Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs536534124	chr9:140428704-140428705	Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs553562306	chr9:140428711-140428712	Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs373295083	chr9:140428747-140428748	Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs570192892	chr9:140428758-140428759	Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs573333127	chr9:140428771-140428772	Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs541149341	chr9:140428782-140428783	Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs535929769	chr9:140428786-140428787	Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs191135197	chr9:140428819-140428820	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs577720373	chr9:140428873-140428874	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs821308	chr9:140428938-140428939	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs182978244	chr9:140428969-140428970	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs147323081	chr9:140428980-140428981	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs821307	chr9:140428998-140428999	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:59 , 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	chr9:140393000-140429400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:140394000-140429200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:140396400-140429200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:140404200-140429200	Weak transcription	Aorta	Aorta
7	chr9:140408600-140444400	Weak transcription	Esophagus	oesophagus
8	chr9:140410000-140429200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:140411000-140429000	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:140411200-140444200	Weak transcription	Right Atrium	heart
11	chr9:140414600-140429200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:140414600-140438400	Weak transcription	Colonic Mucosa	Colon
13	chr9:140416000-140429200	Weak transcription	Brain Angular Gyrus	brain
14	chr9:140416200-140429200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:140416400-140429000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:140416400-140429000	Weak transcription	Lung	lung
17	chr9:140416400-140429200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:140416400-140429200	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:140416400-140429200	Weak transcription	Brain Substantia Nigra	brain
20	chr9:140416400-140429200	Weak transcription	Right Ventricle	heart
21	chr9:140417800-140429000	Weak transcription	Pancreas	Pancrea
22	chr9:140418200-140429000	Weak transcription	Liver	Liver
23	chr9:140418800-140429200	Weak transcription	Gastric	stomach
24	chr9:140419400-140429000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:140419400-140429000	Weak transcription	Adipose Nuclei	Adipose
26	chr9:140419600-140430800	Weak transcription	Spleen	Spleen
27	chr9:140420200-140429000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr9:140425600-140429200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:140425600-140429200	Weak transcription	Fetal Intestine Small	intestine
30	chr9:140425800-140429200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr9:140426000-140429200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:140426000-140429200	Weak transcription	Fetal Brain Male	brain
33	chr9:140426000-140429200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr9:140426200-140428600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr9:140426200-140429000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:140426200-140429000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:140426200-140429000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:140426200-140429200	Weak transcription	Primary B cells from cord blood	blood
39	chr9:140426200-140429200	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:140426200-140429200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr9:140426200-140429400	Weak transcription	Primary T cells from cord blood	blood
42	chr9:140426400-140429200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr9:140426400-140429200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr9:140426400-140429200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:140426400-140429200	Weak transcription	Fetal Stomach	stomach
46	chr9:140426400-140435800	Weak transcription	HSMMtube	muscle
47	chr9:140426600-140429000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:140426600-140429000	Weak transcription	Ovary	ovary
49	chr9:140426600-140429200	Weak transcription	Fetal Thymus	thymus
50	chr9:140427000-140429200	Weak transcription	Brain Anterior Caudate	brain

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