Variant report

Variant	nsv525926
Chromosome Location	chr6:73855954-73856411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	6:73855086-73857473..6:74099986-74112890	K562	blood:
2	6:73855086-73857473..6:74078047-74099067	K562	blood:
3	6:73855086-73857473..6:74160392-74184826	K562	blood:
4	6:73855086-73857473..6:74062967-74076046	GM12878	blood:
5	chr6:73846488..73848334-chr6:73855218..73857477,2	K562	blood:

Variant related genes	Relation type
ENSG00000238464	chromatin interactions
ENSG00000203908	chromatin interactions
ENSG00000224221	chromatin interactions
ENSG00000203909	chromatin interactions
ENSG00000203907	chromatin interactions
ENSG00000135297	chromatin interactions
ENSG00000080007	chromatin interactions
ENSG00000164430	chromatin interactions
ENSG00000231332	chromatin interactions
ENSG00000207023	chromatin interactions
ENSG00000235174	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7764373	chr6:73855954-73855955	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373150462	chr6:73855968-73855969	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs189338553	chr6:73855974-73855975	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs9351975	chr6:73855984-73855985	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs565466363	chr6:73856010-73856011	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs368935842	chr6:73856014-73856015	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs532727968	chr6:73856018-73856019	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs7744386	chr6:73856033-73856034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7744394	chr6:73856055-73856056	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566913457	chr6:73856065-73856066	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs530052529	chr6:73856081-73856082	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs181672434	chr6:73856116-73856117	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs7764571	chr6:73856120-73856121	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527779317	chr6:73856157-73856158	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs546520327	chr6:73856162-73856163	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs571407203	chr6:73856170-73856171	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs538586628	chr6:73856177-73856178	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs557235818	chr6:73856180-73856181	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs138709890	chr6:73856181-73856182	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs555550925	chr6:73856186-73856187	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs527999539	chr6:73856193-73856194	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs569131105	chr6:73856196-73856197	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs375691289	chr6:73856198-73856199	Weak transcription Strong transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs144160732	chr6:73856212-73856213	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs112629319	chr6:73856249-73856250	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs6906616	chr6:73856259-73856260	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146510659	chr6:73856263-73856264	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs557431451	chr6:73856264-73856265	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs141251659	chr6:73856271-73856272	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs9351976	chr6:73856347-73856348	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs547354565	chr6:73856349-73856350	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs541644885	chr6:73856371-73856372	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs58798764	chr6:73856372-73856373	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs186208061	chr6:73856406-73856407	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs6906825	chr6:73856411-73856412	Weak transcription Strong transcription	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73844400-73867000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73844600-73865200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:73844800-73866400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:73846000-73866400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:73846400-73879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73853000-73856200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:73854400-73856600	Strong transcription	Primary B cells from cord blood	blood
8	chr6:73854600-73867200	Weak transcription	Aorta	Aorta
9	chr6:73855400-73856200	Enhancers	GM12878-XiMat	blood
10	chr6:73856200-73861600	Weak transcription	GM12878-XiMat	blood
11	chr6:73856200-73866400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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