Variant report

Variant	esv2089947
Chromosome Location	chr9:136692112-136692701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136686248..136688046-chr9:136689663..136693225,3	K562	blood:
2	chr9:136689578..136693594-chr9:136695126..136697537,4	K562	blood:
3	chr9:136688132..136689983-chr9:136690497..136693313,2	MCF-7	breast:
4	chr9:136687210..136690877-chr9:136692524..136697595,4	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115861550	chr9:136692119-136692120	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs535165836	chr9:136692131-136692132	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs539188779	chr9:136692134-136692135	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs557536546	chr9:136692143-136692144	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs575799174	chr9:136692173-136692174	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs192070127	chr9:136692187-136692188	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs554643000	chr9:136692207-136692208	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539270525	chr9:136692213-136692214	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185048516	chr9:136692279-136692280	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540980828	chr9:136692290-136692291	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144579880	chr9:136692295-136692296	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113839063	chr9:136692297-136692298	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532967131	chr9:136692298-136692299	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115844954	chr9:136692300-136692301	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537544772	chr9:136692301-136692302	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530507436	chr9:136692303-136692304	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142325184	chr9:136692309-136692310	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548991967	chr9:136692325-136692326	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2486342	chr9:136692326-136692327	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567172760	chr9:136692335-136692336	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183909766	chr9:136692338-136692339	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2486343	chr9:136692343-136692344	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12343771	chr9:136692357-136692358	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs66864002	chr9:136692368-136692369	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200227886	chr9:136692371-136692372	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3003581	chr9:136692373-136692374	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571904871	chr9:136692374-136692375	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3003582	chr9:136692382-136692383	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13295503	chr9:136692391-136692392	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3003583	chr9:136692396-136692397	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112943050	chr9:136692397-136692398	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374322877	chr9:136692405-136692406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71929339	chr9:136692416-136692417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539275272	chr9:136692417-136692418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367814799	chr9:136692420-136692421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372169408	chr9:136692434-136692435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78223767	chr9:136692439-136692440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75459882	chr9:136692444-136692445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79465405	chr9:136692453-136692454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12347343	chr9:136692468-136692469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61274509	chr9:136692469-136692470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57514434	chr9:136692470-136692471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58502745	chr9:136692478-136692479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58166286	chr9:136692482-136692483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78444039	chr9:136692492-136692493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376505066	chr9:136692493-136692494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111326216	chr9:136692499-136692500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113227000	chr9:136692501-136692502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536762836	chr9:136692525-136692526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61477883	chr9:136692526-136692527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	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
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136658800-136705400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:136659000-136702200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:136661400-136693800	Weak transcription	HMEC	breast
4	chr9:136670000-136692600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:136673200-136705000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:136674600-136699000	Weak transcription	Aorta	Aorta
7	chr9:136675200-136728400	Weak transcription	Esophagus	oesophagus
8	chr9:136675400-136703200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:136675400-136709400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:136675600-136698000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:136675600-136704800	Weak transcription	Adipose Nuclei	Adipose
12	chr9:136676000-136699800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:136677000-136705000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:136679200-136696800	Weak transcription	Gastric	stomach
15	chr9:136680000-136696800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:136680200-136693600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:136680200-136693800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:136682200-136692400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:136682200-136701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:136683800-136705000	Weak transcription	NHDF-Ad	bronchial
21	chr9:136684000-136694400	Weak transcription	Hela-S3	cervix
22	chr9:136684200-136696800	Weak transcription	Osteobl	bone
23	chr9:136684200-136704800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:136686000-136709600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:136686200-136692200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:136686600-136692200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:136686600-136705000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:136686800-136692200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:136687000-136692200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:136687000-136692200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:136687000-136697000	Weak transcription	Pancreas	Pancrea
32	chr9:136687400-136692200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr9:136687600-136705000	Weak transcription	HSMMtube	muscle
34	chr9:136688600-136693600	Weak transcription	Liver	Liver
35	chr9:136688800-136693600	Weak transcription	HepG2	liver
36	chr9:136688800-136694000	Weak transcription	Fetal Intestine Large	intestine
37	chr9:136689000-136692200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:136689200-136704800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr9:136689800-136692200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr9:136689800-136692200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr9:136690000-136693800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr9:136690000-136694200	Weak transcription	NHEK	skin
43	chr9:136690400-136692200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:136690400-136692200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:136690400-136692200	Enhancers	Fetal Muscle Leg	muscle
46	chr9:136690400-136692400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:136690400-136692400	Enhancers	Brain Germinal Matrix	brain
48	chr9:136690400-136692400	Enhancers	Placenta	Placenta
49	chr9:136690400-136692400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr9:136690600-136692200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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