Variant report

Variant	nsv462993
Chromosome Location	chr6:66636204-66719597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:66666961..66669216-chr6:66669694..66671348,2	MCF-7	breast:
2	chr6:66697645..66699348-chr6:66753143..66756102,2	K562	blood:
3	chr6:66677113..66680051-chr6:66725985..66728195,2	K562	blood:
4	chr6:66666961..66669216-chr6:66669694..66671348,2	MCF-7	breast:
5	chr6:66677113..66678881-chr6:66726026..66728195,2	K562	blood:

Extended variants
information (count: 1664 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559691441	chr6:66640027-66640028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs78222853	chr6:66640058-66640059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548429705	chr6:66640076-66640077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556624043	chr6:66640079-66640080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561969677	chr6:66640110-66640111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2100801	chr6:66640111-66640112	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554528635	chr6:66640206-66640207	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs74995761	chr6:66640216-66640217	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188300436	chr6:66640235-66640236	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538722610	chr6:66640238-66640239	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551925780	chr6:66640239-66640240	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576528726	chr6:66640270-66640271	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78861090	chr6:66640271-66640272	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149917597	chr6:66640278-66640279	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs191656778	chr6:66640282-66640283	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs144935429	chr6:66640290-66640291	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs149041445	chr6:66640294-66640295	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577308901	chr6:66640301-66640302	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183986918	chr6:66640386-66640387	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553097386	chr6:66640401-66640402	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs115926371	chr6:66640425-66640426	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs35172076	chr6:66640476-66640477	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs542134834	chr6:66640488-66640489	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562075830	chr6:66640510-66640511	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs9363496	chr6:66640517-66640518	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs62401973	chr6:66640528-66640529	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs554504926	chr6:66640551-66640552	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544523242	chr6:66640712-66640713	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188774193	chr6:66640714-66640715	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs143007750	chr6:66640801-66640802	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs73742117	chr6:66640824-66640825	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs141378185	chr6:66640830-66640831	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528057144	chr6:66640848-66640849	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs548187305	chr6:66640872-66640873	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs73742118	chr6:66640882-66640883	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79507557	chr6:66640908-66640909	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556888279	chr6:66640928-66640929	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570581924	chr6:66640968-66640969	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199546152	chr6:66640980-66640981	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs181770393	chr6:66641007-66641008	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553400657	chr6:66641015-66641016	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs376732287	chr6:66641036-66641037	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs185569087	chr6:66641064-66641065	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572983180	chr6:66641069-66641070	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs190297606	chr6:66641087-66641088	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs555336005	chr6:66641091-66641092	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs145113846	chr6:66641096-66641097	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79522358	chr6:66641140-66641141	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74838188	chr6:66641178-66641179	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs533540799	chr6:66641195-66641196	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	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
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66640000-66640200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:66640200-66641400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:66640200-66641600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:66641600-66641800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:66641800-66645200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:66645200-66645600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:66647400-66647800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:66647400-66647800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:66647400-66648400	Enhancers	Ovary	ovary
10	chr6:66647800-66648200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:66647800-66648200	Enhancers	Fetal Muscle Leg	muscle
12	chr6:66648200-66648400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:66648400-66653400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:66648400-66653600	Weak transcription	Ovary	ovary
15	chr6:66649000-66649200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:66649200-66650400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:66650400-66650800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:66650800-66653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:66652600-66653800	Enhancers	Fetal Lung	lung
20	chr6:66653000-66653600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr6:66653000-66654000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:66653400-66653800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:66653400-66653800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:66653400-66653800	Enhancers	Adipose Nuclei	Adipose
25	chr6:66653400-66653800	Enhancers	Fetal Stomach	stomach
26	chr6:66653400-66654000	Enhancers	Fetal Brain Male	brain
27	chr6:66653600-66654000	Enhancers	Ovary	ovary
28	chr6:66655400-66655800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:66655400-66656200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:66656200-66663600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:66663600-66664000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:66672800-66673600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:66672800-66674200	Enhancers	Fetal Stomach	stomach
34	chr6:66688200-66690400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:66689800-66690200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:66699000-66699400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:66699200-66699400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:66699800-66701000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:66701000-66702200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:66707600-66708000	Enhancers	HepG2	liver
41	chr6:66707600-66708200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:66708600-66709800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:66709000-66709800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:66709200-66709400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:66709400-66709600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:66709600-66710000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:66709800-66719400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:66712400-66713000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:66719400-66720000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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