Variant report

Variant	esv3429589
Chromosome Location	chr9:78986490-78986955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370319643	chr9:78986503-78986504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184871425	chr9:78986506-78986507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13288968	chr9:78986531-78986532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs201203855	chr9:78986551-78986552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141304085	chr9:78986563-78986564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369701214	chr9:78986564-78986565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71372072	chr9:78986570-78986571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147128970	chr9:78986571-78986572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149926096	chr9:78986573-78986574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141242395	chr9:78986575-78986576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138277063	chr9:78986577-78986578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28507518	chr9:78986581-78986582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146736724	chr9:78986582-78986583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56169638	chr9:78986589-78986590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13290331	chr9:78986607-78986608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71372073	chr9:78986609-78986610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369115789	chr9:78986610-78986611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28601832	chr9:78986613-78986614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13295341	chr9:78986617-78986618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13290338	chr9:78986619-78986620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28444265	chr9:78986630-78986631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60128658	chr9:78986632-78986633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60490173	chr9:78986635-78986636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28435648	chr9:78986636-78986637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376958470	chr9:78986637-78986638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71372074	chr9:78986640-78986641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536088360	chr9:78986643-78986644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555983988	chr9:78986654-78986655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575456009	chr9:78986656-78986657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537544990	chr9:78986658-78986659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188084883	chr9:78986727-78986728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371484812	chr9:78986729-78986730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34380148	chr9:78986807-78986808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192534915	chr9:78986820-78986821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560046296	chr9:78986849-78986850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2501938	chr9:78986853-78986854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542455233	chr9:78986857-78986858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573135502	chr9:78986891-78986892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536432847	chr9:78986913-78986914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562341127	chr9:78986939-78986940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78969200-78988000	Weak transcription	Aorta	Aorta
2	chr9:78978800-78987000	Weak transcription	Small Intestine	intestine
3	chr9:78979400-78986800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:78980400-78986800	Weak transcription	HSMM	muscle
5	chr9:78980400-78987000	Weak transcription	HSMMtube	muscle
6	chr9:78980400-78990000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:78981200-78986800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:78981600-78988000	Weak transcription	K562	blood
9	chr9:78983800-78989000	Enhancers	Fetal Lung	lung
10	chr9:78984400-78989600	Enhancers	Hela-S3	cervix
11	chr9:78984600-78986800	Weak transcription	Osteobl	bone
12	chr9:78984600-78993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:78984800-78986800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:78984800-78986800	Weak transcription	HUVEC	blood vessel
15	chr9:78984800-78987200	Weak transcription	NHLF	lung
16	chr9:78984800-78987800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:78984800-78989800	Weak transcription	Left Ventricle	heart
18	chr9:78985000-78986800	Weak transcription	Fetal Stomach	stomach
19	chr9:78985000-78986800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr9:78985000-78987000	Weak transcription	Fetal Heart	heart
21	chr9:78985000-78987400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:78985000-78988000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:78985000-78988000	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:78985000-78989000	Weak transcription	Pancreas	Pancrea
25	chr9:78985000-78989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:78985000-78989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:78985000-78989800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr9:78985200-78987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:78985400-78986800	Weak transcription	Fetal Intestine Large	intestine
30	chr9:78985400-78987200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:78985600-78986800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr9:78985600-78986800	Weak transcription	NH-A	brain
33	chr9:78985600-78987200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:78985600-78987600	Weak transcription	GM12878-XiMat	blood
35	chr9:78985600-78989600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:78985800-78986800	Weak transcription	Liver	Liver
37	chr9:78985800-78987000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:78985800-78987000	Weak transcription	Fetal Intestine Small	intestine
39	chr9:78985800-78987000	Weak transcription	HepG2	liver
40	chr9:78985800-78987600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:78986000-78987000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:78986000-78987200	Weak transcription	Stomach Mucosa	stomach
43	chr9:78986000-78990400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:78986200-78986600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:78986400-78986800	Weak transcription	A549	lung
46	chr9:78986400-78988000	Enhancers	Colonic Mucosa	Colon
47	chr9:78986600-78988000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:78986600-78988600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr9:78986600-79008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:78986800-78987000	Enhancers	Gastric	stomach

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