Variant report

Variant	esv2762625
Chromosome Location	chr6:162092293-162096566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151196409	chr6:162093601-162093602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533540570	chr6:162093609-162093610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550009527	chr6:162093611-162093612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570089625	chr6:162093637-162093638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535519712	chr6:162093644-162093645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368339511	chr6:162093650-162093651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555335819	chr6:162093664-162093665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568039351	chr6:162093666-162093667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188750908	chr6:162093701-162093702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551924473	chr6:162093708-162093709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553623911	chr6:162093733-162093734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181900483	chr6:162093757-162093758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571678592	chr6:162093769-162093770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114104273	chr6:162093799-162093800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556027211	chr6:162093802-162093803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12197876	chr6:162093803-162093804	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138569552	chr6:162093807-162093808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541876383	chr6:162093839-162093840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189244903	chr6:162093840-162093841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181019011	chr6:162093862-162093863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541766295	chr6:162093879-162093880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9347532	chr6:162093941-162093942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs35442127	chr6:162093952-162093953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573377126	chr6:162093995-162093996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533368155	chr6:162094000-162094001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550337497	chr6:162094010-162094011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186049407	chr6:162094022-162094023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529364273	chr6:162094023-162094024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73786422	chr6:162094064-162094065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368712462	chr6:162094108-162094109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114155102	chr6:162094113-162094114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6904356	chr6:162094123-162094124	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369715622	chr6:162094150-162094151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553661515	chr6:162094195-162094196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570717730	chr6:162094211-162094212	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs539303555	chr6:162094229-162094230	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs371805110	chr6:162094254-162094255	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs150346054	chr6:162094256-162094257	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs207467554	chr6:162094285-162094286	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541962238	chr6:162094301-162094302	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113836625	chr6:162094302-162094303	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs115866488	chr6:162094305-162094306	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574030027	chr6:162094307-162094308	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540985976	chr6:162094309-162094310	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs544522438	chr6:162094314-162094315	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs564665630	chr6:162094447-162094448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369728635	chr6:162094466-162094467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533672184	chr6:162094522-162094523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543680055	chr6:162094560-162094561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563888128	chr6:162094575-162094576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Chordoma	18071362	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
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162093600-162094400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:162094000-162094200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:162094200-162094400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:162094200-162094400	Enhancers	Psoas Muscle	Psoas
5	chr6:162094400-162097000	Weak transcription	Psoas Muscle	Psoas
6	chr6:162094400-162103200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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