Variant report

Variant	nsv886079
Chromosome Location	chr6:67702591-67749082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:67703812..67706032-chr6:67716375..67719338,2	K562	blood:
2	chr6:67731062..67733775-chr6:67734181..67735767,2	MCF-7	breast:
3	chr6:67690651..67692337-chr6:67701670..67703736,2	K562	blood:
4	chr6:67697416..67700217-chr6:67716740..67718720,2	K562	blood:
5	chr6:67731062..67733775-chr6:67734181..67735767,2	MCF-7	breast:
6	chr6:67703812..67706032-chr6:67716375..67719338,2	K562	blood:

Extended variants
information (count: 334 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553430697	chr6:67702607-67702608	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112372209	chr6:67702638-67702639	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577967523	chr6:67702657-67702658	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372790649	chr6:67702682-67702683	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551944493	chr6:67702743-67702744	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9453956	chr6:67702761-67702762	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547655394	chr6:67702844-67702845	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144616348	chr6:67702875-67702876	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145436083	chr6:67702887-67702888	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2504076	chr6:67702892-67702893	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571270208	chr6:67702899-67702900	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557275137	chr6:67702910-67702911	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529599859	chr6:67702923-67702924	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570950073	chr6:67702930-67702931	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2444656	chr6:67702952-67702953	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553148064	chr6:67702964-67702965	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549756626	chr6:67702986-67702987	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543615485	chr6:67702991-67702992	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573309969	chr6:67703009-67703010	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188554701	chr6:67703044-67703045	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76577702	chr6:67703062-67703063	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193155403	chr6:67703071-67703072	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543738487	chr6:67703079-67703080	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563608513	chr6:67703094-67703095	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143388531	chr6:67703131-67703132	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545999914	chr6:67703136-67703137	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559147631	chr6:67703159-67703160	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528156317	chr6:67703199-67703200	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113542871	chr6:67703252-67703253	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs9453957	chr6:67703276-67703277	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148362740	chr6:67703314-67703315	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369409306	chr6:67703330-67703331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201143243	chr6:67703405-67703406	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550954959	chr6:67703435-67703436	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs116106299	chr6:67703443-67703444	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs9453958	chr6:67703447-67703448	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553547912	chr6:67703451-67703452	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566987904	chr6:67703472-67703473	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559437609	chr6:67703480-67703481	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs143185846	chr6:67703515-67703516	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555944754	chr6:67703566-67703567	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs575669356	chr6:67703625-67703626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs544620132	chr6:67703646-67703647	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs147070768	chr6:67703662-67703663	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574794586	chr6:67703666-67703667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs73461628	chr6:67703723-67703724	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185392430	chr6:67703726-67703727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs138404130	chr6:67703746-67703747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs574266713	chr6:67718477-67718478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144324887	chr6:67718478-67718479	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67702600-67703200	Enhancers	Hela-S3	cervix
2	chr6:67702600-67703600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:67703000-67703800	Active TSS	A549	lung
4	chr6:67703200-67703400	Active TSS	Hela-S3	cervix
5	chr6:67703400-67703600	Flanking Active TSS	Hela-S3	cervix
6	chr6:67718400-67718600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:67718600-67719600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:67719600-67720400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:67719800-67720200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:67719800-67720200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:67720400-67721400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:67721400-67721600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:67737800-67738800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:67738800-67739200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:67740800-67741200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:67741000-67741800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:67741400-67742600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:67741600-67742000	Active TSS	Fetal Kidney	kidney
19	chr6:67741600-67742200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:67741800-67742400	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr6:67742000-67742400	Active TSS	Primary hematopoietic stem cells	blood

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