Variant report

Variant	esv3471966
Chromosome Location	chr6:165724667-165732136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:165730351-165730533	H1-hESC	embryonic stem cell:	n/a	chr6:165730431-165730441 chr6:165730435-165730444
2	REST	chr6:165730334-165730521	H1-hESC	embryonic stem cell:	n/a	chr6:165730431-165730441 chr6:165730435-165730444

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:165726694..165728455-chr6:165728585..165730141,2	MCF-7	breast:
2	chr6:165726694..165728455-chr6:165728585..165730141,2	MCF-7	breast:

Variant related genes	Relation type
C6orf118	TF binding region

Extended variants
information (count: 139 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560428385	chr6:165724707-165724708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527577773	chr6:165724712-165724713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34662684	chr6:165724783-165724784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548983167	chr6:165724913-165724914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567295720	chr6:165724920-165724921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531696511	chr6:165724990-165724991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549823153	chr6:165725026-165725027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571641844	chr6:165725133-165725134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34503850	chr6:165725223-165725224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74616420	chr6:165725245-165725246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144693118	chr6:165725334-165725335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77577979	chr6:165725524-165725525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184184536	chr6:165725618-165725619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555422499	chr6:165725632-165725633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573631493	chr6:165725671-165725672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544331323	chr6:165725842-165725843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112870223	chr6:165725843-165725844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563977373	chr6:165725893-165725894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111877403	chr6:165725920-165725921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187444314	chr6:165725974-165725975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145852912	chr6:165725995-165725996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192333534	chr6:165726240-165726241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542467439	chr6:165726252-165726253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531124220	chr6:165726354-165726355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560957851	chr6:165726378-165726379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182639770	chr6:165726386-165726387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549763155	chr6:165726474-165726475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571740152	chr6:165726514-165726515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35960417	chr6:165726678-165726679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187022870	chr6:165726683-165726684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547984596	chr6:165726784-165726785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566110393	chr6:165726879-165726880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549124054	chr6:165726888-165726889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192921019	chr6:165726891-165726892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570351991	chr6:165727069-165727070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184200838	chr6:165727075-165727076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535446452	chr6:165727097-165727098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189519636	chr6:165727126-165727127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577684611	chr6:165727212-165727213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538329238	chr6:165727283-165727284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141941468	chr6:165727373-165727374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553936696	chr6:165727374-165727375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567522479	chr6:165727404-165727405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535172396	chr6:165727447-165727448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200251306	chr6:165727461-165727462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201580576	chr6:165727622-165727623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571869426	chr6:165727761-165727762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193076864	chr6:165727763-165727764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542404059	chr6:165727811-165727812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150254501	chr6:165727844-165727845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165723200-165726000	Weak transcription	Right Atrium	heart
2	chr6:165723200-165733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:165724000-165725000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:165730000-165730600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:165730400-165731200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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