Variant report

Variant	nsv981358
Chromosome Location	chr6:23893475-23909386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527993129	chr6:23893481-23893482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369160470	chr6:23893502-23893503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562398245	chr6:23893520-23893521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188054233	chr6:23893553-23893554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549558094	chr6:23893561-23893562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74595352	chr6:23893563-23893564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147398187	chr6:23893577-23893578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369757601	chr6:23893589-23893590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537411370	chr6:23893651-23893652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78116382	chr6:23893684-23893685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140036651	chr6:23893685-23893686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571877926	chr6:23893704-23893705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190701598	chr6:23893725-23893726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539186557	chr6:23893759-23893760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557534659	chr6:23893800-23893801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530716441	chr6:23904604-23904605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188502044	chr6:23904609-23904610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192008267	chr6:23904613-23904614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143010793	chr6:23904623-23904624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148197097	chr6:23904635-23904636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543522803	chr6:23904637-23904638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565717769	chr6:23904702-23904703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375779401	chr6:23904710-23904711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539053463	chr6:23904713-23904714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559237673	chr6:23904716-23904717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184991647	chr6:23904721-23904722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141170078	chr6:23904725-23904726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556356683	chr6:23904731-23904732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34497144	chr6:23904806-23904807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574654081	chr6:23904808-23904809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5874955	chr6:23904818-23904819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs398084828	chr6:23904825-23904826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541963718	chr6:23904826-23904827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560372657	chr6:23904830-23904831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572435827	chr6:23904834-23904835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564180519	chr6:23904898-23904899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114029729	chr6:23904901-23904902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75073536	chr6:23904904-23904905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531654862	chr6:23904913-23904914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9356915	chr6:23904964-23904965	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76009468	chr6:23904977-23904978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529098053	chr6:23904983-23904984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547511933	chr6:23904985-23904986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12528233	chr6:23905029-23905030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539448670	chr6:23905046-23905047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551114402	chr6:23905085-23905086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16888289	chr6:23905093-23905094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528901253	chr6:23905172-23905173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538160807	chr6:23905174-23905175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377184196	chr6:23905176-23905177	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23893400-23893800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:23904600-23905200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:23904600-23906200	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:23904800-23905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:23904800-23906400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:23905000-23905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:23905200-23905800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:23905400-23905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:23905400-23905800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:23905600-23906000	Enhancers	Colon Smooth Muscle	Colon
11	chr6:23905800-23906200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:23905800-23906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:23905800-23906200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:23906200-23910800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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