Variant report

Variant	nsv603591
Chromosome Location	chr6:68065040-68102319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68085152..68088022-chr6:68089241..68092194,2	MCF-7	breast:
2	chr6:68085152..68088022-chr6:68089241..68092194,2	MCF-7	breast:
3	chr6:68029025..68030581-chr6:68070322..68071978,2	K562	blood:
4	chr6:68075451..68077006-chr6:68082097..68085010,2	K562	blood:
5	chr6:68062325..68064771-chr6:68066321..68068609,3	K562	blood:
6	chr6:68100365..68102401-chr6:68111000..68113004,2	K562	blood:
7	chr6:67641579..67644100-chr6:68068975..68070914,2	K562	blood:
8	chr3:40565910..40566852-chr6:68076614..68077483,2	MCF-7	breast:
9	chr6:68099897..68102194-chr6:68105769..68107802,2	K562	blood:
10	chr6:68061490..68063825-chr6:68066626..68069282,2	K562	blood:
11	chr6:68036021..68038147-chr6:68069085..68071759,2	K562	blood:
12	chr6:68026494..68028999-chr6:68072957..68074504,2	K562	blood:
13	chr6:68075451..68077006-chr6:68082097..68085010,2	K562	blood:
14	chr6:68077520..68081954-chr6:68082718..68085102,4	K562	blood:
15	chr6:68077520..68081954-chr6:68082718..68085102,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAI3-4	chr6:68095844-68095887	XLOC_005337
2	lnc-BAI3-4	chr6:68095954-68096267	XLOC_005337

No data

Variant related genes	Relation type
ENSG00000172888	chromatin interactions
EIF2A	miRNA target sites
LRRFIP1	miRNA target sites

Extended variants
information (count: 292 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145150315	chr6:68068239-68068240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13218112	chr6:68068259-68068260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536349140	chr6:68068289-68068290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147163174	chr6:68068312-68068313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182413654	chr6:68068344-68068345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186654946	chr6:68068414-68068415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558507460	chr6:68068415-68068416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139066577	chr6:68068416-68068417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369726809	chr6:68068422-68068423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190320147	chr6:68068461-68068462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542062828	chr6:68068509-68068510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553693293	chr6:68068520-68068521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573733629	chr6:68068526-68068527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542380433	chr6:68068543-68068544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372543881	chr6:68068549-68068550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562569970	chr6:68068620-68068621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531419014	chr6:68068632-68068633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372037953	chr6:68068668-68068669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182775921	chr6:68068674-68068675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7774753	chr6:68068710-68068711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528034615	chr6:68068722-68068723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548071071	chr6:68068740-68068741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188235344	chr6:68068770-68068771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57898511	chr6:68068773-68068774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550089245	chr6:68068791-68068792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72887286	chr6:68068833-68068834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538743759	chr6:68068853-68068854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570393177	chr6:68068855-68068856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552192404	chr6:68068859-68068860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs193001457	chr6:68068889-68068890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565695033	chr6:68068918-68068919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11341590	chr6:68068983-68068984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185204263	chr6:68069026-68069027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187900944	chr6:68069041-68069042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192364082	chr6:68069071-68069072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536481524	chr6:68069113-68069114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183701897	chr6:68069134-68069135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35901084	chr6:68069165-68069166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187965981	chr6:68069182-68069183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140328258	chr6:68069218-68069219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181406550	chr6:68069304-68069305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572040973	chr6:68069344-68069345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184936583	chr6:68069361-68069362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561657482	chr6:68069385-68069386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530304335	chr6:68069387-68069388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549493797	chr6:68069404-68069405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144200894	chr6:68069428-68069429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189831635	chr6:68069527-68069528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181830515	chr6:68069540-68069541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535611633	chr6:68069543-68069544	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
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68068200-68068800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:68068200-68069400	Enhancers	K562	blood
3	chr6:68068800-68071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:68069400-68071000	Weak transcription	K562	blood
5	chr6:68070800-68071000	Enhancers	HepG2	liver
6	chr6:68070800-68071400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:68071000-68071200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:68071000-68071200	Enhancers	Dnd41	blood
9	chr6:68071000-68071200	Flanking Active TSS	K562	blood
10	chr6:68071000-68071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr6:68071000-68071400	Flanking Active TSS	HepG2	liver
12	chr6:68071000-68071600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:68071000-68071600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:68071200-68071400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:68071200-68071400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:68071200-68071600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:68071200-68071600	Flanking Active TSS	Dnd41	blood
18	chr6:68071200-68071800	Active TSS	A549	lung
19	chr6:68071200-68073800	Active TSS	K562	blood
20	chr6:68071400-68071800	Active TSS	HepG2	liver
21	chr6:68071600-68072000	Enhancers	Dnd41	blood
22	chr6:68073800-68074000	Flanking Active TSS	K562	blood
23	chr6:68094200-68095000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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