Variant report

Variant	esv1827618
Chromosome Location	chr6:161231592-161246303
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161231600..161233858-chr6:161239225..161241427,2	K562	blood:
2	chr6:161235361..161237238-chr6:161238681..161240959,2	K562	blood:
3	chr6:161227686..161230343-chr6:161232478..161234190,2	K562	blood:
4	chr6:161235361..161237238-chr6:161238681..161240959,2	K562	blood:
5	chr6:161227565..161229491-chr6:161229972..161232150,2	MCF-7	breast:
6	chr6:161231600..161233858-chr6:161239225..161241427,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LPA-2	chr6:161237596-161237875	XLOC_005906
2	lnc-LPA-2	chr6:161236582-161237293	XLOC_005906
3	lnc-LPA-2	chr6:161238186-161238383	XLOC_005906

No data

Extended variants
information (count: 112 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9456592	chr6:161231592-161231593	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144602838	chr6:161231596-161231597	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558487313	chr6:161231602-161231603	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575353965	chr6:161231631-161231632	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188211237	chr6:161231674-161231675	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148203012	chr6:161231700-161231701	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369345797	chr6:161231702-161231703	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73784988	chr6:161231756-161231757	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74798217	chr6:161231770-161231771	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79693774	chr6:161231786-161231787	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538288815	chr6:161231803-161231804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150737979	chr6:161231804-161231805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564899736	chr6:161231807-161231808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530500925	chr6:161231839-161231840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139095347	chr6:161231862-161231863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567363314	chr6:161231879-161231880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193255211	chr6:161231897-161231898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547131509	chr6:161231994-161231995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184082692	chr6:161232009-161232010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149604584	chr6:161232074-161232075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187848493	chr6:161232152-161232153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191554927	chr6:161232153-161232154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537848156	chr6:161232177-161232178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9458040	chr6:161232224-161232225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs373680216	chr6:161232255-161232256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183693784	chr6:161232256-161232257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559473623	chr6:161232266-161232267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372556742	chr6:161232281-161232282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368108134	chr6:161232370-161232371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147310409	chr6:161232391-161232392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371087621	chr6:161232437-161232438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188753644	chr6:161232456-161232457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530566508	chr6:161232458-161232459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544178281	chr6:161232532-161232533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192592161	chr6:161232575-161232576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529759825	chr6:161232685-161232686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546900138	chr6:161232765-161232766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs783157	chr6:161232771-161232772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376818075	chr6:161232786-161232787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566006478	chr6:161232798-161232799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532588961	chr6:161232813-161232814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368202100	chr6:161232851-161232852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372304365	chr6:161232868-161232869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185332850	chr6:161232956-161232957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141022098	chr6:161232973-161232974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376659888	chr6:161232976-161232977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534911157	chr6:161232994-161232995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554511008	chr6:161233018-161233019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568486032	chr6:161233038-161233039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534332414	chr6:161233070-161233071	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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161231200-161231600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:161231200-161231800	Enhancers	HepG2	liver
3	chr6:161231400-161231800	Active TSS	A549	lung
4	chr6:161231400-161233000	Weak transcription	GM12878-XiMat	blood
5	chr6:161233000-161233600	Enhancers	GM12878-XiMat	blood

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