Variant report

Variant	esv21360
Chromosome Location	chr6:119013104-119014016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119013493..119017016-chr6:119017311..119020424,5	K562	blood:
2	chr6:119012354..119023494-chr6:119027532..119033557,15	K562	blood:
3	chr6:118990170..118992293-chr6:119012694..119014681,2	K562	blood:

Variant related genes	Relation type
ENSG00000111860	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542973457	chr6:119013129-119013130	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562761922	chr6:119013131-119013132	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559464171	chr6:119013196-119013197	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576466539	chr6:119013216-119013217	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575547882	chr6:119013255-119013256	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184652941	chr6:119013282-119013283	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545211074	chr6:119013288-119013289	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565132484	chr6:119013289-119013290	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188267505	chr6:119013296-119013297	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527832257	chr6:119013314-119013315	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs180747536	chr6:119013316-119013317	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141285989	chr6:119013359-119013360	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs794858	chr6:119013394-119013395	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145025876	chr6:119013397-119013398	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11755295	chr6:119013402-119013403	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
16	rs35281780	chr6:119013465-119013466	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537939842	chr6:119013467-119013468	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551237069	chr6:119013473-119013474	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571370872	chr6:119013474-119013475	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs62423999	chr6:119013532-119013533	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185540411	chr6:119013539-119013540	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542347544	chr6:119013549-119013550	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536183527	chr6:119013552-119013553	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566767563	chr6:119013606-119013607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138807359	chr6:119013616-119013617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576405047	chr6:119013627-119013628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545387411	chr6:119013678-119013679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549524366	chr6:119013735-119013736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189958382	chr6:119013743-119013744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572222104	chr6:119013747-119013748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs386508499	chr6:119013927-119013928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs541197337	chr6:119013928-119013929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs193208482	chr6:119013929-119013930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181742164	chr6:119013937-119013938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530406915	chr6:119013942-119013943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371048923	chr6:119013959-119013960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs794859	chr6:119013976-119013977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:111)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118990600-119025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:118999600-119015600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:118999600-119021600	Weak transcription	Thymus	Thymus
4	chr6:119001000-119026000	Weak transcription	NH-A	brain
5	chr6:119002000-119017400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:119002200-119026600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:119002400-119014600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:119004000-119026600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:119005000-119016000	Weak transcription	Primary B cells from cord blood	blood
10	chr6:119005600-119015800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:119005600-119016000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:119005800-119014800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:119007400-119013400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:119007400-119018000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:119007400-119021400	Weak transcription	Dnd41	blood
16	chr6:119008000-119014000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:119008200-119014600	Weak transcription	Primary T cells from cord blood	blood
18	chr6:119008400-119018600	Weak transcription	K562	blood
19	chr6:119008400-119022000	Weak transcription	GM12878-XiMat	blood
20	chr6:119010000-119014000	Weak transcription	Psoas Muscle	Psoas
21	chr6:119010200-119019600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:119010400-119016600	Weak transcription	Fetal Thymus	thymus
23	chr6:119011800-119013200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:119012000-119014600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:119012200-119013200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:119013000-119013200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:119013000-119013600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr6:119013200-119013400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:119013200-119014000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr6:119013200-119015400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:119013400-119013800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr6:119013400-119014600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:119013400-119015200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:119013600-119016000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:119013800-119014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:119014000-119014200	Enhancers	Psoas Muscle	Psoas
37	chr6:119014000-119014400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:119014000-119015400	Enhancers	Primary T helper cells fromperipheralblood	blood

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