Variant report

Variant	esv2440070
Chromosome Location	chr6:119011977-119014934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:118990170..118992293-chr6:119012694..119014681,2	K562	blood:
2	chr6:119012354..119023494-chr6:119027532..119033557,15	K562	blood:
3	chr6:119013493..119017016-chr6:119017311..119020424,5	K562	blood:
4	chr6:119014557..119016920-chr6:119023661..119027711,4	K562	blood:

Variant related genes	Relation type
ENSG00000111860	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs794856	chr6:119011982-119011983	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117705480	chr6:119012013-119012014	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111654361	chr6:119012054-119012055	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566171360	chr6:119012091-119012092	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200753577	chr6:119012171-119012172	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111269997	chr6:119012174-119012175	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535172354	chr6:119012185-119012186	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62423996	chr6:119012202-119012203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572029729	chr6:119012216-119012217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575252020	chr6:119012234-119012235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544358074	chr6:119012327-119012328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187036023	chr6:119012328-119012329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs794857	chr6:119012423-119012424	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533033212	chr6:119012470-119012471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192920873	chr6:119012477-119012478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560488531	chr6:119012525-119012526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185092422	chr6:119012542-119012543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542660773	chr6:119012554-119012555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189976818	chr6:119012561-119012562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370100829	chr6:119012562-119012563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551924182	chr6:119012567-119012568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs151210437	chr6:119012627-119012628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527968823	chr6:119012628-119012629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576556301	chr6:119012637-119012638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547730017	chr6:119012647-119012648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373615701	chr6:119012650-119012651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567621290	chr6:119012651-119012652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372306868	chr6:119012696-119012697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs57203282	chr6:119012712-119012713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369781820	chr6:119012713-119012714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374428207	chr6:119012717-119012718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567704797	chr6:119012759-119012760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs62423997	chr6:119012775-119012776	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553474117	chr6:119012832-119012833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56061975	chr6:119012834-119012835	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568903377	chr6:119012858-119012859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4946354	chr6:119012882-119012883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs202215909	chr6:119012902-119012903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112878584	chr6:119012903-119012904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537574878	chr6:119012941-119012942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs58406342	chr6:119012950-119012951	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182563845	chr6:119012963-119012964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577955128	chr6:119012968-119012969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7454872	chr6:119012993-119012994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs2029606	chr6:119013038-119013039	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377594113	chr6:119013072-119013073	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10485390	chr6:119013074-119013075	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145275388	chr6:119013091-119013092	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573994087	chr6:119013099-119013100	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542973457	chr6:119013129-119013130	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:55 , 50 per page) page: 1 2

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	chr6:119009800-119012200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:119010000-119014000	Weak transcription	Psoas Muscle	Psoas
22	chr6:119010200-119019600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:119010400-119016600	Weak transcription	Fetal Thymus	thymus
24	chr6:119011400-119012200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:119011600-119012000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:119011600-119012000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:119011600-119012200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr6:119011800-119013200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:119012000-119014600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:119012200-119013000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:119012200-119013000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:119012200-119013200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:119013000-119013200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr6:119013000-119013600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:119013200-119013400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:119013200-119014000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:119013200-119015400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:119013400-119013800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr6:119013400-119014600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr6:119013400-119015200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:119013600-119016000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr6:119013800-119014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:119014000-119014200	Enhancers	Psoas Muscle	Psoas
44	chr6:119014000-119014400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:119014000-119015400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr6:119014200-119014600	Weak transcription	Psoas Muscle	Psoas
47	chr6:119014400-119016800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr6:119014600-119015000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr6:119014600-119015000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr6:119014600-119015200	Genic enhancers	Primary T cells from cord blood	blood

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