Variant report

Variant	nsv601143
Chromosome Location	chr6:23905239-23929237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:23918439..23920690-chr6:23924109..23926782,2	MCF-7	breast:
2	chr10:102117039..102117661-chr6:23910880..23911790,2	Hela-S3	cervix:
3	chr6:23923563..23926014-chr6:23927623..23930582,2	MCF-7	breast:
4	chr6:23918439..23920690-chr6:23924109..23926782,2	MCF-7	breast:
5	chr6:23923563..23926014-chr6:23927623..23930582,2	MCF-7	breast:

Extended variants
information (count: 918 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9366550	chr6:23905239-23905240	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569482237	chr6:23905244-23905245	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs16888293	chr6:23905271-23905272	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576457165	chr6:23905293-23905294	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs531120744	chr6:23905299-23905300	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561954401	chr6:23905332-23905333	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs16888294	chr6:23905340-23905341	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141069946	chr6:23905361-23905362	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs9356916	chr6:23905365-23905366	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs143202441	chr6:23905366-23905367	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs77947335	chr6:23905374-23905375	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370903626	chr6:23905412-23905413	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs147512973	chr6:23905424-23905425	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs544934469	chr6:23905429-23905430	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183949848	chr6:23905441-23905442	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139929273	chr6:23905443-23905444	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189453432	chr6:23905450-23905451	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181398181	chr6:23905516-23905517	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554087321	chr6:23905535-23905536	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114348034	chr6:23905539-23905540	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs515845	chr6:23905553-23905554	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs76063229	chr6:23905567-23905568	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs9393502	chr6:23905573-23905574	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186448607	chr6:23905582-23905583	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145161517	chr6:23905594-23905595	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs148711341	chr6:23905601-23905602	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7752738	chr6:23905645-23905646	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7752600	chr6:23905654-23905655	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533105786	chr6:23905667-23905668	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544826428	chr6:23905678-23905679	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs79237630	chr6:23905713-23905714	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs147822064	chr6:23905729-23905730	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557200854	chr6:23905741-23905742	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs367690963	chr6:23905796-23905797	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs142298091	chr6:23905800-23905801	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs548588278	chr6:23905801-23905802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566885998	chr6:23905803-23905804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151219237	chr6:23905834-23905835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370569515	chr6:23905900-23905901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566188506	chr6:23905910-23905911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9466976	chr6:23905915-23905916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs140413014	chr6:23905945-23905946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75105930	chr6:23905981-23905982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191651598	chr6:23905999-23906000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555816116	chr6:23906002-23906003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9460939	chr6:23906027-23906028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539934441	chr6:23906071-23906072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11757918	chr6:23906100-23906101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112591517	chr6:23906131-23906132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2745447	chr6:23906132-23906133	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23904600-23906200	Enhancers	Primary hematopoietic stem cells	blood
2	chr6:23904800-23905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:23904800-23906400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:23905000-23905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:23905200-23905800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:23905400-23905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:23905400-23905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:23905600-23906000	Enhancers	Colon Smooth Muscle	Colon
9	chr6:23905800-23906200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:23905800-23906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:23905800-23906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:23906200-23910800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:23910800-23911600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:23911600-23916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:23915600-23916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:23915800-23916400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:23915800-23917000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:23916000-23916400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:23917000-23921800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:23921800-23923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:23922000-23924000	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:23922600-23923200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:23929200-23929600	Enhancers	Fetal Stomach	stomach

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