Variant report

Variant	nsv968707
Chromosome Location	chr9:79158608-79164600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79072682..79077481-chr9:79155712..79161702,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCNT1-1	chr9:79163437-79163468	XLOC_007414

Variant related genes	Relation type
ENSG00000187210	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551793830	chr9:79158639-79158640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531343456	chr9:79158706-79158707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191980952	chr9:79158715-79158716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115740595	chr9:79158791-79158792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570957983	chr9:79158800-79158801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117152666	chr9:79158829-79158830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77371299	chr9:79158841-79158842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534203486	chr9:79158850-79158851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77069292	chr9:79158937-79158938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146066342	chr9:79158964-79158965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568283059	chr9:79158972-79158973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181895120	chr9:79158988-79158989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537963056	chr9:79159004-79159005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557888808	chr9:79159011-79159012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75606807	chr9:79159015-79159016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs673624	chr9:79159083-79159084	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
17	rs184878416	chr9:79159115-79159116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538285010	chr9:79159129-79159130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114617038	chr9:79159145-79159146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536734870	chr9:79159159-79159160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562473692	chr9:79159167-79159168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531386981	chr9:79159196-79159197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113852726	chr9:79159203-79159204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116911259	chr9:79159214-79159215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575112314	chr9:79159220-79159221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs60689617	chr9:79159355-79159356	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533346493	chr9:79159363-79159364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546817182	chr9:79159368-79159369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575347327	chr9:79159393-79159394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111606068	chr9:79159399-79159400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544362139	chr9:79159436-79159437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376391177	chr9:79159450-79159451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548925877	chr9:79159464-79159465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370544430	chr9:79159478-79159479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116673359	chr9:79159500-79159501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557789213	chr9:79159511-79159512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538311134	chr9:79159518-79159519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571380232	chr9:79159590-79159591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557988266	chr9:79159618-79159619	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139146314	chr9:79159636-79159637	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533956168	chr9:79159650-79159651	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189299004	chr9:79159706-79159707	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573938781	chr9:79159761-79159762	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577494249	chr9:79159781-79159782	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542943656	chr9:79159822-79159823	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539878727	chr9:79159826-79159827	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2104344	chr9:79159890-79159891	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs149942238	chr9:79159901-79159902	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs180969250	chr9:79159928-79159929	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527422941	chr9:79159956-79159957	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79137200-79173600	Weak transcription	Primary B cells from cord blood	blood
2	chr9:79148400-79159800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr9:79148600-79159800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr9:79154200-79171400	Weak transcription	Osteobl	bone
5	chr9:79154200-79172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:79154400-79171600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:79159600-79160200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:79159600-79160600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr9:79159600-79160800	Enhancers	Stomach Mucosa	stomach
10	chr9:79159800-79160000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr9:79159800-79160200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:79159800-79160200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr9:79159800-79160400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr9:79159800-79160600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:79159800-79160600	Enhancers	HepG2	liver
16	chr9:79160000-79160400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:79160800-79161200	Weak transcription	Stomach Mucosa	stomach
18	chr9:79161200-79161400	Enhancers	Stomach Mucosa	stomach
19	chr9:79161400-79165400	Weak transcription	Stomach Mucosa	stomach
20	chr9:79162000-79165200	Weak transcription	Fetal Intestine Small	intestine

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