Variant report

Variant	esv3422312
Chromosome Location	chr6:150230961-150234088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150225385..150227618-chr6:150231399..150233931,2	MCF-7	breast:
2	chr6:150232168..150236512-chr6:150243000..150246593,4	K562	blood:
3	chr6:150229228..150230970-chr6:150242810..150245033,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203722	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551779258	chr6:150230990-150230991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189481923	chr6:150231004-150231005	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6936077	chr6:150231005-150231006	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529856739	chr6:150231030-150231031	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192303204	chr6:150231037-150231038	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533304008	chr6:150231073-150231074	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184254275	chr6:150231101-150231102	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189204926	chr6:150231102-150231103	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529457753	chr6:150231104-150231105	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549134423	chr6:150231145-150231146	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116345054	chr6:150231189-150231190	ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538129851	chr6:150231217-150231218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557503141	chr6:150231249-150231250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571213713	chr6:150231252-150231253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6910537	chr6:150231275-150231276	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35993837	chr6:150231293-150231294	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147439156	chr6:150231295-150231296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573743578	chr6:150231351-150231352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181179526	chr6:150231357-150231358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111877418	chr6:150231384-150231385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73782137	chr6:150231388-150231389	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563267997	chr6:150231396-150231397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185814272	chr6:150231397-150231398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73782139	chr6:150231400-150231401	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540225355	chr6:150231415-150231416	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189010401	chr6:150231432-150231433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529321762	chr6:150231442-150231443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6910890	chr6:150231450-150231451	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562727616	chr6:150231452-150231453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531924234	chr6:150231459-150231460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552048937	chr6:150231460-150231461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571801910	chr6:150231480-150231481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533798280	chr6:150231499-150231500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547049635	chr6:150231501-150231502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567396023	chr6:150231513-150231514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376688350	chr6:150231522-150231523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148481717	chr6:150231526-150231527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181730264	chr6:150231527-150231528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576299150	chr6:150231532-150231533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117342388	chr6:150231592-150231593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142639124	chr6:150231593-150231594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78431217	chr6:150231596-150231597	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150986583	chr6:150231620-150231621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560094821	chr6:150231637-150231638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73612466	chr6:150231656-150231657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542704740	chr6:150231691-150231692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565666565	chr6:150231713-150231714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116744201	chr6:150231721-150231722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531792438	chr6:150231743-150231744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75081246	chr6:150231769-150231770	Weak transcription	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
Autism	21448237	CNVD
Autism	22495311	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
Follicular lymphoma	20505157	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150226200-150242000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:150227800-150243400	Weak transcription	Right Ventricle	heart
3	chr6:150230200-150231600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:150230200-150239000	Weak transcription	Esophagus	oesophagus
5	chr6:150230400-150243600	Weak transcription	Pancreas	Pancrea
6	chr6:150231000-150231200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:150231600-150239200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:150234000-150235200	Enhancers	K562	blood

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