Variant report

Variant	nsv601144
Chromosome Location	chr6:23915870-23924231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:23923563..23926014-chr6:23927623..23930582,2	MCF-7	breast:
2	chr6:23918439..23920690-chr6:23924109..23926782,2	MCF-7	breast:
3	chr6:23918439..23920690-chr6:23924109..23926782,2	MCF-7	breast:

Extended variants
information (count: 392 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs474833	chr6:23915870-23915871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372968352	chr6:23915898-23915899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs474923	chr6:23915899-23915900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534856286	chr6:23915914-23915915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370486436	chr6:23915915-23915916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186772465	chr6:23915937-23915938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532043353	chr6:23915954-23915955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543753359	chr6:23915990-23915991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191144641	chr6:23916001-23916002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553161809	chr6:23916004-23916005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574546118	chr6:23916091-23916092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547945858	chr6:23916138-23916139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200469591	chr6:23916155-23916156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566195571	chr6:23916159-23916160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140410177	chr6:23916182-23916183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563671646	chr6:23916188-23916189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575578982	chr6:23916196-23916197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77917837	chr6:23916216-23916217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371981455	chr6:23916231-23916232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56326519	chr6:23916243-23916244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373713055	chr6:23916251-23916252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537392088	chr6:23916263-23916264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113175617	chr6:23916352-23916353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370368094	chr6:23916405-23916406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144151388	chr6:23916421-23916422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567149373	chr6:23916446-23916447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145472432	chr6:23916450-23916451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552714267	chr6:23916499-23916500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184058900	chr6:23916518-23916519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377675392	chr6:23916524-23916525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544739758	chr6:23916525-23916526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545904982	chr6:23916561-23916562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186829375	chr6:23916578-23916579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370912090	chr6:23916590-23916591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565145178	chr6:23916596-23916597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575130149	chr6:23916597-23916598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374525260	chr6:23916606-23916607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78159679	chr6:23916638-23916639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529578915	chr6:23916653-23916654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74486495	chr6:23916659-23916660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs58258947	chr6:23916667-23916668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533474408	chr6:23916672-23916673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149208454	chr6:23916674-23916675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143885020	chr6:23916683-23916684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs503618	chr6:23916703-23916704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs143385196	chr6:23916773-23916774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529890420	chr6:23916794-23916795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569112740	chr6:23916799-23916800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10715713	chr6:23916846-23916847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533838873	chr6:23916849-23916850	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23911600-23916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:23915600-23916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:23915800-23916400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:23915800-23917000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:23916000-23916400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:23917000-23921800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:23921800-23923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:23922000-23924000	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:23922600-23923200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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