Variant report

Variant	esv3341492
Chromosome Location	chr6:61905793-61910091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:58777707..58778511-chr6:61909313..61909813,2	MCF-7	breast:
2	chr6:58777712..58778738-chr6:61909295..61909815,6	MCF-7	breast:
3	chr6:58776858..58779077-chr6:61908295..61909815,2	MCF-7	breast:
4	chr6:58777651..58778267-chr6:61909313..61909813,3	MCF-7	breast:
5	chr6:58777671..58778345-chr6:61909292..61909815,4	MCF-7	breast:

Extended variants
information (count: 509 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541376407	chr6:61905803-61905804	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs73464623	chr6:61905817-61905818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs113922863	chr6:61905823-61905824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs571982407	chr6:61905826-61905827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542493946	chr6:61905833-61905834	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201129761	chr6:61905838-61905839	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs201738528	chr6:61905852-61905853	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs199726527	chr6:61905865-61905866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544333192	chr6:61905885-61905886	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113263100	chr6:61905888-61905889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560886130	chr6:61905900-61905901	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs531396130	chr6:61905934-61905935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549754062	chr6:61905973-61905974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs112397702	chr6:61905978-61905979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369364005	chr6:61905980-61905981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370492606	chr6:61905989-61905990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564514668	chr6:61905991-61905992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs199856231	chr6:61905997-61905998	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs564945620	chr6:61905998-61905999	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533335966	chr6:61906002-61906003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs189770701	chr6:61906015-61906016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113533148	chr6:61906037-61906038	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs202214350	chr6:61906076-61906077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143210134	chr6:61906077-61906078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs150936034	chr6:61906093-61906094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs536280551	chr6:61906095-61906096	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201199274	chr6:61906107-61906108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570589788	chr6:61906109-61906110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113472942	chr6:61906117-61906118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112207077	chr6:61906133-61906134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs112831336	chr6:61906134-61906135	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200402967	chr6:61906139-61906140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs558894955	chr6:61906141-61906142	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs577233351	chr6:61906144-61906145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs534830438	chr6:61906150-61906151	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs137947435	chr6:61906185-61906186	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537952242	chr6:61906203-61906204	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs541863531	chr6:61906222-61906223	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs554443525	chr6:61906233-61906234	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112644215	chr6:61906248-61906249	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs547386646	chr6:61906283-61906284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs185991071	chr6:61906307-61906308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs564945456	chr6:61906310-61906311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs184041534	chr6:61906335-61906336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs532204312	chr6:61906350-61906351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs540746008	chr6:61906356-61906357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs551153213	chr6:61906357-61906358	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs4947223	chr6:61906372-61906373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192097201	chr6:61906376-61906377	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs201720165	chr6:61906386-61906387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:61893800-61905800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr6:61902000-61906600	Weak transcription	NHDF-Ad	bronchial
3	chr6:61902200-61906600	Weak transcription	NHLF	lung
4	chr6:61902200-61906600	Weak transcription	Osteobl	bone
5	chr6:61904000-61906600	Weak transcription	HSMMtube	muscle
6	chr6:61904000-61906600	Weak transcription	K562	blood
7	chr6:61904600-61905800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr6:61904800-61906200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr6:61905000-61914400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr6:61905200-61906600	Weak transcription	NH-A	brain
11	chr6:61905400-61906600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:61905400-61906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:61905400-61906600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:61905400-61906600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:61905400-61906600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:61905400-61908200	Weak transcription	Aorta	Aorta
17	chr6:61905400-61909600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:61905600-61906600	Weak transcription	HUVEC	blood vessel
19	chr6:61906600-61906800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:61906600-61906800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:61906600-61906800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:61906600-61906800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr6:61906600-61906800	ZNF genes & repeats	Dnd41	blood
24	chr6:61906600-61906800	ZNF genes & repeats	GM12878-XiMat	blood
25	chr6:61906600-61906800	ZNF genes & repeats	HMEC	breast
26	chr6:61906600-61906800	ZNF genes & repeats	HSMMtube	muscle
27	chr6:61906600-61906800	ZNF genes & repeats	K562	blood
28	chr6:61906600-61906800	ZNF genes & repeats	NH-A	brain
29	chr6:61906600-61906800	ZNF genes & repeats	NHDF-Ad	bronchial
30	chr6:61906600-61906800	ZNF genes & repeats	NHLF	lung
31	chr6:61906600-61906800	ZNF genes & repeats	Osteobl	bone
32	chr6:61906600-61907000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:61906600-61907000	ZNF genes & repeats	HUVEC	blood vessel
34	chr6:61906600-61908600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:61906600-61914600	ZNF genes & repeats	HepG2	liver
36	chr6:61906800-61907600	Weak transcription	NH-A	brain
37	chr6:61906800-61908000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:61906800-61908000	Weak transcription	GM12878-XiMat	blood
39	chr6:61906800-61908000	Weak transcription	NHLF	lung
40	chr6:61906800-61913400	Weak transcription	HSMMtube	muscle
41	chr6:61906800-61914000	Weak transcription	K562	blood
42	chr6:61907000-61908000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:61907400-61908600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr6:61907600-61908200	Active TSS	NH-A	brain
45	chr6:61908000-61908200	ZNF genes & repeats	GM12878-XiMat	blood
46	chr6:61908000-61908200	Active TSS	NHLF	lung
47	chr6:61908000-61908400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
48	chr6:61908000-61908600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:61908000-61908600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:61908200-61908400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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