Variant report

Variant	nsv603583
Chromosome Location	chr6:67561944-67624339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:67616212..67617756-chr6:67621376..67624095,2	MCF-7	breast:
2	chr6:67620371..67622862-chr6:67622985..67625637,2	K562	blood:
3	chr6:67620371..67622862-chr6:67622985..67625637,2	K562	blood:
4	chr6:67616212..67617756-chr6:67621376..67624095,2	MCF-7	breast:

Extended variants
information (count: 831 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530238956	chr6:67564012-67564013	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs543920091	chr6:67564067-67564068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562583774	chr6:67564216-67564217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73453413	chr6:67564267-67564268	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377230379	chr6:67564276-67564277	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs192999148	chr6:67564300-67564301	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185301964	chr6:67564309-67564310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571529687	chr6:67564370-67564371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528093101	chr6:67564385-67564386	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs527551113	chr6:67564412-67564413	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547013212	chr6:67564418-67564419	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537153231	chr6:67564447-67564448	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188618255	chr6:67564449-67564450	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556212220	chr6:67564481-67564482	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149159056	chr6:67564529-67564530	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs9354488	chr6:67564560-67564561	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546639073	chr6:67564573-67564574	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558843468	chr6:67564574-67564575	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572713078	chr6:67564605-67564606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77777089	chr6:67564615-67564616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555030080	chr6:67564623-67564624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574877747	chr6:67564675-67564676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543981541	chr6:67564684-67564685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184214014	chr6:67564708-67564709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577228403	chr6:67564831-67564832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564837001	chr6:67564832-67564833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371846099	chr6:67564852-67564853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564906225	chr6:67564880-67564881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556897175	chr6:67564904-67564905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115841082	chr6:67564960-67564961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4588672	chr6:67564992-67564993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138189346	chr6:67564994-67564995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371264841	chr6:67564995-67564996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60428307	chr6:67565011-67565012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550759176	chr6:67565046-67565047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560589269	chr6:67565076-67565077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529636486	chr6:67565084-67565085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369275399	chr6:67565094-67565095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549461632	chr6:67565126-67565127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35484090	chr6:67565137-67565138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376074367	chr6:67565143-67565144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59080213	chr6:67565198-67565199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs66579461	chr6:67565199-67565200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143271420	chr6:67565219-67565220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538321078	chr6:67565221-67565222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552759356	chr6:67565225-67565226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs70981275	chr6:67565236-67565237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573739240	chr6:67565293-67565294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181211357	chr6:67565365-67565366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545048794	chr6:67565369-67565370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67564000-67564600	Active TSS	Fetal Heart	heart
2	chr6:67564400-67565000	Enhancers	Adipose Nuclei	Adipose
3	chr6:67565000-67570400	Weak transcription	Adipose Nuclei	Adipose
4	chr6:67570400-67571200	Enhancers	Adipose Nuclei	Adipose
5	chr6:67575800-67577000	Enhancers	NH-A	brain
6	chr6:67587000-67588400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:67590600-67591200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:67590600-67591200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:67590600-67591200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:67590800-67591200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:67590800-67591200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr6:67606200-67607200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:67606200-67608000	Enhancers	NHEK	skin
14	chr6:67606400-67608000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:67606600-67608200	Enhancers	HMEC	breast
16	chr6:67607200-67608200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:67607400-67607800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:67607400-67607800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:67607400-67607800	Enhancers	Adipose Nuclei	Adipose
20	chr6:67607400-67608200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr6:67607600-67608000	Active TSS	Fetal Heart	heart
22	chr6:67607800-67609800	Weak transcription	Adipose Nuclei	Adipose
23	chr6:67609200-67613200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:67609400-67609600	Enhancers	NH-A	brain
25	chr6:67610000-67610600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:67610200-67610400	Enhancers	Adipose Nuclei	Adipose
27	chr6:67610200-67610400	Enhancers	NH-A	brain
28	chr6:67610200-67610600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:67610600-67611600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:67611600-67612000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:67611600-67612200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:67611600-67612400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:67621600-67622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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