Variant report

Variant	nsv972462
Chromosome Location	chr9:136967281-136992279
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:9)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136968920..136970584-chr9:136990772..136992877,2	MCF-7	breast:
2	chr9:136987581..136991620-chr9:136999080..137002104,8	MCF-7	breast:
3	chr9:136966895..136967395-chr9:137427987..137428542,2	K562	blood:
4	chr9:136968920..136970584-chr9:136990772..136992877,2	MCF-7	breast:
5	chr9:136934778..136936960-chr9:136965343..136968102,2	K562	blood:
6	chr9:136856596..136858826-chr9:136986805..136989503,2	MCF-7	breast:
7	chr9:136931852..136933427-chr9:136988020..136990522,2	MCF-7	breast:
8	chr9:136967534..136969174-chr9:136971059..136973731,2	MCF-7	breast:
9	chr9:136967534..136969174-chr9:136971059..136973731,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR5-6	chr9:136973135-136973275	NONHSAT135374
2	lnc-WDR5-6	chr9:136968818-136968857	NONHSAT135374
3	lnc-WDR5-6	chr9:136974582-136974862	NONHSAT135374

No data

Variant related genes	Relation type
ENSG00000273249	chromatin interactions
ENSG00000160293	chromatin interactions
ENSG00000196363	chromatin interactions
ENSG00000169925	chromatin interactions

Extended variants
information (count: 768 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:768 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139969813	chr9:136967292-136967293	Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs575465294	chr9:136967317-136967318	Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs73663198	chr9:136967381-136967382	Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554474438	chr9:136967398-136967399	Bivalent/Poised TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs573691895	chr9:136967404-136967405	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541075619	chr9:136967410-136967411	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559753140	chr9:136967413-136967414	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182990447	chr9:136967432-136967433	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116264661	chr9:136967472-136967473	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563753378	chr9:136967473-136967474	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531156947	chr9:136967509-136967510	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187322499	chr9:136967527-136967528	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73561316	chr9:136967540-136967541	Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528044736	chr9:136967594-136967595	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149842935	chr9:136967602-136967603	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546627686	chr9:136967606-136967607	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145721113	chr9:136967633-136967634	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139464279	chr9:136967640-136967641	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144304261	chr9:136967663-136967664	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568940632	chr9:136967664-136967665	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536079444	chr9:136967738-136967739	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554443531	chr9:136967767-136967768	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572806170	chr9:136967844-136967845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534660901	chr9:136967845-136967846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77607201	chr9:136967864-136967865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199538576	chr9:136967875-136967876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578026184	chr9:136967877-136967878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34668147	chr9:136967961-136967962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374919101	chr9:136967962-136967963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75105694	chr9:136967977-136967978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559254495	chr9:136967988-136967989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146574349	chr9:136967992-136967993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112350331	chr9:136968000-136968001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563839544	chr9:136968018-136968019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140366258	chr9:136968030-136968031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191958137	chr9:136968036-136968037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143537736	chr9:136968053-136968054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528808479	chr9:136968063-136968064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540195571	chr9:136968091-136968092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151018359	chr9:136968096-136968097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532165045	chr9:136968101-136968102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3123787	chr9:136968105-136968106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201048690	chr9:136968109-136968110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150159031	chr9:136968121-136968122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138672608	chr9:136968146-136968147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566396543	chr9:136968153-136968154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142693517	chr9:136968155-136968156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185556702	chr9:136968157-136968158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533212945	chr9:136968171-136968172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539064897	chr9:136968183-136968184	Weak 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
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136953400-136968400	Weak transcription	Gastric	stomach
2	chr9:136966800-136967400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:136967200-136967400	Bivalent Enhancer	Hela-S3	cervix
4	chr9:136967200-136967400	Bivalent Enhancer	HepG2	liver
5	chr9:136967200-136967800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:136968400-136968600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:136968400-136969200	ZNF genes & repeats	Gastric	stomach
8	chr9:136969200-136969400	Weak transcription	Gastric	stomach
9	chr9:136969400-136969600	Enhancers	Gastric	stomach
10	chr9:136974400-136974800	Enhancers	HepG2	liver
11	chr9:136974800-136979200	Weak transcription	HepG2	liver
12	chr9:136976400-136976800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:136979200-136979600	Enhancers	HepG2	liver
14	chr9:136986600-136987400	Enhancers	HepG2	liver
15	chr9:136986800-136987000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:136987000-136990400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:136987400-136987800	Weak transcription	HepG2	liver
18	chr9:136987600-136988200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr9:136987600-136989200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr9:136987800-136988000	Enhancers	HepG2	liver
21	chr9:136988000-136988200	Enhancers	Hela-S3	cervix
22	chr9:136988000-136988200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr9:136988000-136988600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr9:136988000-136988600	Flanking Active TSS	HepG2	liver
25	chr9:136988200-136988400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:136988200-136988600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr9:136988200-136988600	Enhancers	Placenta	Placenta
28	chr9:136988200-136988600	Flanking Active TSS	Hela-S3	cervix
29	chr9:136988200-136988600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr9:136988600-136988800	Enhancers	Hela-S3	cervix
31	chr9:136988600-136988800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr9:136988600-136989800	Enhancers	HepG2	liver
33	chr9:136988600-136990600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr9:136988800-136989200	Flanking Active TSS	Hela-S3	cervix
35	chr9:136988800-136989200	Bivalent Enhancer	K562	blood
36	chr9:136988800-136989200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr9:136989200-136990000	Enhancers	Hela-S3	cervix
38	chr9:136989200-136990000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr9:136989800-136990600	Bivalent Enhancer	HepG2	liver
40	chr9:136990000-136994800	Weak transcription	Hela-S3	cervix
41	chr9:136990400-136990800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:136990400-136991200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:136990400-136994600	Enhancers	Spleen	Spleen
44	chr9:136990600-136991000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr9:136990600-136991000	Enhancers	HSMMtube	muscle
46	chr9:136990600-136991200	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr9:136990800-136991000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr9:136990800-136991000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:136990800-136991000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr9:136990800-136991200	Enhancers	Pancreas	Pancrea

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