Variant report

Variant	esv3370590
Chromosome Location	chr9:140427660-140428204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:140428151..140432406-chr9:140438574..140446219,7	MCF-7	breast:
2	chr9:140420711..140423726-chr9:140426984..140429291,3	K562	blood:
3	chr9:140427918..140430895-chr9:140433135..140434802,2	K562	blood:
4	chr9:140426937..140428831-chr9:140509967..140512178,2	K562	blood:
5	chr9:140427835..140429829-chr9:140435567..140437956,2	MCF-7	breast:
6	chr9:140426992..140430139-chr9:140444541..140447373,3	MCF-7	breast:
7	chr9:140427985..140429515-chr9:140431192..140432744,2	K562	blood:

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

Extended variants
information (count: 24 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543693243	chr9:140427660-140427661	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372950795	chr9:140427673-140427674	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181330264	chr9:140427686-140427687	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs144680410	chr9:140427688-140427689	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541579035	chr9:140427717-140427718	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561783835	chr9:140427731-140427732	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs527290933	chr9:140427737-140427738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547414265	chr9:140427746-140427747	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564059943	chr9:140427753-140427754	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533297316	chr9:140427760-140427761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs377296096	chr9:140427773-140427774	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550077739	chr9:140427790-140427791	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569887116	chr9:140427824-140427825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535603845	chr9:140427929-140427930	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549216839	chr9:140427931-140427932	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189599496	chr9:140427947-140427948	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs11137426	chr9:140427975-140427976	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534799836	chr9:140427977-140427978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557765532	chr9:140427982-140427983	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs821309	chr9:140428047-140428048	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11137427	chr9:140428114-140428115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112568262	chr9:140428137-140428138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557199659	chr9:140428141-140428142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs186080914	chr9:140428156-140428157	Weak 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:53 , 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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