Variant report

Variant	esv13232
Chromosome Location	chr6:161025978-161069831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:
2	chr6:161019352..161022051-chr6:161023813..161026327,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLG-2	chr6:161041576-161041654	NONHSAT115908
2	lnc-PLG-2	chr6:161039310-161039522	NONHSAT115908

Extended variants
information (count: 940 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:940 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555114692	chr6:161026019-161026020	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201480327	chr6:161026077-161026078	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139937718	chr6:161026078-161026079	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202216263	chr6:161026102-161026103	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189364869	chr6:161026103-161026104	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373991752	chr6:161026108-161026109	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577862043	chr6:161026111-161026112	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200190762	chr6:161026157-161026158	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550019234	chr6:161026161-161026162	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571464366	chr6:161026162-161026163	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538586313	chr6:161026165-161026166	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376599925	chr6:161026184-161026185	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199788679	chr6:161026189-161026190	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369601677	chr6:161026196-161026197	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117174672	chr6:161026197-161026198	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201878758	chr6:161026238-161026239	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528966247	chr6:161026265-161026266	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200911406	chr6:161026274-161026275	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201466778	chr6:161026280-161026281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368491135	chr6:161026285-161026286	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559679190	chr6:161026294-161026295	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181347826	chr6:161026307-161026308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563272297	chr6:161026327-161026328	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551785502	chr6:161026330-161026331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571864277	chr6:161026343-161026344	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531120510	chr6:161026356-161026357	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550528154	chr6:161026388-161026389	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145456396	chr6:161026395-161026396	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374518084	chr6:161026413-161026414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536332043	chr6:161026418-161026419	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553472221	chr6:161026452-161026453	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112152453	chr6:161026455-161026456	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534767892	chr6:161026466-161026467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6932014	chr6:161026515-161026516	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs559252275	chr6:161026523-161026524	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577832503	chr6:161026543-161026544	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543758705	chr6:161026581-161026582	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527983711	chr6:161026601-161026602	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147811085	chr6:161026618-161026619	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs41270984	chr6:161026619-161026620	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542737233	chr6:161026632-161026633	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs41270982	chr6:161026636-161026637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528178348	chr6:161026648-161026649	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553904048	chr6:161026661-161026662	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537269424	chr6:161026674-161026675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545544540	chr6:161026675-161026676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565353732	chr6:161026713-161026714	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117834984	chr6:161026740-161026741	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550890284	chr6:161026758-161026759	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567958957	chr6:161026763-161026764	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	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
Carotid artery disease	21127300	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:161025000-161026200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:161026200-161029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:161031200-161031800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
5	chr6:161031800-161032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:161032000-161032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:161032600-161034200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:161032600-161034400	Weak transcription	Liver	Liver
9	chr6:161055600-161056000	Active TSS	Fetal Heart	heart
10	chr6:161055600-161056000	ZNF genes & repeats	Stomach Mucosa	stomach
11	chr6:161055600-161056200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
12	chr6:161055800-161056000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
13	chr6:161055800-161056000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:161055800-161056000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:161055800-161056000	ZNF genes & repeats	Fetal Brain Male	brain
16	chr6:161055800-161056200	ZNF genes & repeats	Fetal Stomach	stomach
17	chr6:161056200-161069400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:161063400-161067800	Weak transcription	Liver	Liver
19	chr6:161067800-161072400	Strong transcription	Liver	Liver
20	chr6:161069400-161069800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
21	chr6:161069800-161071600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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