Variant report

Variant	esv3474359
Chromosome Location	chr6:161726154-161728000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161689899..161692665-chr6:161724207..161726282,2	K562	blood:
2	chr6:161713190..161716483-chr6:161724342..161727800,3	K562	blood:
3	chr6:161714518..161716892-chr6:161724603..161726676,2	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371712650	chr6:161726159-161726160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538843292	chr6:161726179-161726180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558343073	chr6:161726197-161726198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568937674	chr6:161726209-161726210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537799537	chr6:161726212-161726213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554645327	chr6:161726273-161726274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147307486	chr6:161726298-161726299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62437608	chr6:161726310-161726311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12201092	chr6:161726316-161726317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530450477	chr6:161726327-161726328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62437609	chr6:161726329-161726330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12196421	chr6:161726340-161726341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62437610	chr6:161726343-161726344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62437611	chr6:161726350-161726351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62437612	chr6:161726361-161726362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62437613	chr6:161726364-161726365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62437614	chr6:161726365-161726366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184815464	chr6:161726370-161726371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62437615	chr6:161726372-161726373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62437616	chr6:161726373-161726374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62437617	chr6:161726374-161726375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62437618	chr6:161726377-161726378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12195059	chr6:161726385-161726386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12196474	chr6:161726398-161726399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12195063	chr6:161726405-161726406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62437619	chr6:161726412-161726413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62437620	chr6:161726414-161726415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62437621	chr6:161726416-161726417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62437622	chr6:161726417-161726418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7771060	chr6:161726424-161726425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7772250	chr6:161726428-161726429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs62437623	chr6:161726437-161726438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189232893	chr6:161726480-161726481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149983977	chr6:161726509-161726510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112941282	chr6:161726521-161726522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140085552	chr6:161726583-161726584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532162178	chr6:161726604-161726605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112338111	chr6:161726614-161726615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555224430	chr6:161726639-161726640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181047570	chr6:161726650-161726651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537984493	chr6:161726651-161726652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548185653	chr6:161726655-161726656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111957199	chr6:161726710-161726711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58646831	chr6:161726711-161726712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201052092	chr6:161726712-161726713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117536082	chr6:161726722-161726723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398003233	chr6:161726723-161726724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537158167	chr6:161726772-161726773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533782602	chr6:161726773-161726774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371697316	chr6:161726799-161726800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161715200-161726800	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:161722600-161727600	Weak transcription	K562	blood
3	chr6:161722600-161735800	Weak transcription	Right Atrium	heart
4	chr6:161722800-161727000	Weak transcription	Brain Substantia Nigra	brain
5	chr6:161724200-161726200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:161725000-161726600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:161725200-161726200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:161725400-161726400	Enhancers	Placenta	Placenta
9	chr6:161725600-161726200	Enhancers	Adipose Nuclei	Adipose
10	chr6:161725600-161730200	Weak transcription	HMEC	breast
11	chr6:161726800-161727000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:161726800-161729000	Enhancers	Brain Hippocampus Middle	brain
13	chr6:161727000-161727200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr6:161727000-161727400	Enhancers	Brain Substantia Nigra	brain
15	chr6:161727000-161728400	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:161727400-161728600	Weak transcription	Brain Substantia Nigra	brain
17	chr6:161727600-161728000	Enhancers	K562	blood
18	chr6:161728000-161733800	Weak transcription	K562	blood

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