Variant report

Variant	nsv462659
Chromosome Location	chr6:23918178-23945271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:23933203..23935134-chr6:23935922..23937472,2	K562	blood:
2	chr6:23918439..23920690-chr6:23924109..23926782,2	MCF-7	breast:
3	chr6:23923563..23926014-chr6:23927623..23930582,2	MCF-7	breast:
4	chr6:23918439..23920690-chr6:23924109..23926782,2	MCF-7	breast:
5	chr6:23933203..23935134-chr6:23935922..23937472,2	K562	blood:
6	chr6:23923563..23926014-chr6:23927623..23930582,2	MCF-7	breast:

Extended variants
information (count: 374 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:374 , 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	rs13203985	chr6:23918178-23918179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191514122	chr6:23918182-23918183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533753884	chr6:23918219-23918220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558550220	chr6:23918223-23918224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577161445	chr6:23918253-23918254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34856535	chr6:23918255-23918256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560216	chr6:23918275-23918276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138729745	chr6:23918291-23918292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184108582	chr6:23918295-23918296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9393507	chr6:23918305-23918306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542743605	chr6:23918378-23918379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554629840	chr6:23918398-23918399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72839009	chr6:23918399-23918400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540254060	chr6:23918419-23918420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555072898	chr6:23918420-23918421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10633990	chr6:23918425-23918426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34688543	chr6:23918426-23918427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565238336	chr6:23918462-23918463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77942046	chr6:23918467-23918468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532315028	chr6:23918481-23918482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544484718	chr6:23918491-23918492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562269	chr6:23918539-23918540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562587454	chr6:23918544-23918545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529892315	chr6:23918594-23918595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548338467	chr6:23918628-23918629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566584929	chr6:23918631-23918632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187638176	chr6:23918686-23918687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562482342	chr6:23918694-23918695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79761892	chr6:23918695-23918696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149360167	chr6:23918709-23918710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111770375	chr6:23918714-23918715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs507425	chr6:23918733-23918734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189714407	chr6:23918738-23918739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182064716	chr6:23918749-23918750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114137292	chr6:23918798-23918799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1511467	chr6:23918873-23918874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs573005171	chr6:23918932-23918933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372294725	chr6:23918981-23918982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186616931	chr6:23918997-23918998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369756269	chr6:23919038-23919039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144590458	chr6:23919055-23919056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115184210	chr6:23919056-23919057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544207300	chr6:23919089-23919090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567536293	chr6:23919110-23919111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148492226	chr6:23919117-23919118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574749952	chr6:23919135-23919136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570111396	chr6:23919179-23919180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542064730	chr6:23919187-23919188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552978564	chr6:23919199-23919200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79934453	chr6:23919234-23919235	Weak transcription	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23917000-23921800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:23921800-23923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:23922000-23924000	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:23922600-23923200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:23929200-23929600	Enhancers	Fetal Stomach	stomach
6	chr6:23940400-23941200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:23940400-23941400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:23940600-23941200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr6:23941000-23941400	Enhancers	Fetal Heart	heart
10	chr6:23942000-23942400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links