Variant report

Variant	esv3444834
Chromosome Location	chr6:161770587-161773335
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161767644..161770802-chr6:161771608..161773725,3	K562	blood:
2	chr6:161761010..161763771-chr6:161770193..161772937,2	K562	blood:
3	chr6:161767119..161768691-chr6:161769859..161772026,2	K562	blood:
4	chr6:161772837..161774713-chr6:161777546..161779588,2	K562	blood:
5	chr6:161767495..161769144-chr6:161772225..161774509,3	K562	blood:
6	chr6:161767644..161770802-chr6:161771608..161773725,3	K562	blood:
7	chr6:161695295..161697875-chr6:161769720..161771302,2	K562	blood:

No data

Extended variants
information (count: 93 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375770586	chr6:161770590-161770591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112757570	chr6:161770603-161770604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548853930	chr6:161770674-161770675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565924215	chr6:161770683-161770684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534613701	chr6:161770793-161770794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71653628	chr6:161770811-161770812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs576586040	chr6:161770830-161770831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs537129880	chr6:161770888-161770889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543236357	chr6:161771009-161771010	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557142572	chr6:161771010-161771011	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575581029	chr6:161771015-161771016	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544293869	chr6:161771023-161771024	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369334516	chr6:161771024-161771025	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573670651	chr6:161771025-161771026	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62637702	chr6:161771037-161771038	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545573732	chr6:161771039-161771040	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553007666	chr6:161771071-161771072	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200940812	chr6:161771082-161771083	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61730194	chr6:161771115-161771116	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35125035	chr6:161771116-161771117	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368253350	chr6:161771123-161771124	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112022904	chr6:161771129-161771130	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182893847	chr6:161771157-161771158	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs137853056	chr6:161771171-161771172	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544295360	chr6:161771190-161771191	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149953814	chr6:161771219-161771220	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs397514694	chr6:161771237-161771238	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs191486604	chr6:161771240-161771241	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs202021008	chr6:161771247-161771248	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs376430600	chr6:161771266-161771267	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201468658	chr6:161771279-161771280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs372111562	chr6:161771283-161771284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187275400	chr6:161771302-161771303	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551417154	chr6:161771308-161771309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs74497568	chr6:161771361-161771362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561588042	chr6:161771363-161771364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537284954	chr6:161771385-161771386	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557203915	chr6:161771392-161771393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs116961833	chr6:161771404-161771405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80033990	chr6:161771412-161771413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149981427	chr6:161771465-161771466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78691111	chr6:161771480-161771481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192550932	chr6:161771510-161771511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559032990	chr6:161771519-161771520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563502565	chr6:161771615-161771616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575783691	chr6:161771950-161771951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544356524	chr6:161771951-161771952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185813445	chr6:161771956-161771957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57565573	chr6:161771992-161771993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58908398	chr6:161772028-161772029	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161763400-161782000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:161768400-161774200	Weak transcription	Brain Angular Gyrus	brain
3	chr6:161768400-161774200	Weak transcription	Brain Anterior Caudate	brain
4	chr6:161768400-161774800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:161768600-161774200	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:161768600-161774400	Weak transcription	Brain Substantia Nigra	brain
7	chr6:161769400-161771800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:161769400-161774200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:161769600-161770800	Weak transcription	Aorta	Aorta
10	chr6:161769600-161771000	Weak transcription	Gastric	stomach
11	chr6:161770800-161771000	ZNF genes & repeats	Aorta	Aorta
12	chr6:161771000-161771200	Enhancers	Gastric	stomach
13	chr6:161771000-161771400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:161771400-161771600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:161771400-161780200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:161771600-161774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:161772800-161773200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr6:161772800-161773200	Enhancers	K562	blood
19	chr6:161772800-161773200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:161773200-161774200	Weak transcription	K562	blood
21	chr6:161773200-161776000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:161773200-161776000	Weak transcription	Monocytes-CD14+_RO01746	blood

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