Variant report

Variant	esv3434683
Chromosome Location	chr6:163232662-163236060
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	CHD2	chr6:163235253-163235303	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:163235226-163236074	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr6:163235178-163235992	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr6:163235812-163235818	Gliobla	brain:	n/a	n/a
5	REST	chr6:163235037-163236132	H1-neurons	neurons:	n/a	n/a
6	REST	chr6:163235287-163236049	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
PACRG	TF binding region

Extended variants
information (count: 125 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73603844	chr6:163232707-163232708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565975677	chr6:163232781-163232782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528422116	chr6:163232897-163232898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185747976	chr6:163232910-163232911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188663974	chr6:163232925-163232926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536870042	chr6:163232926-163232927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372806760	chr6:163232976-163232977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1333960	chr6:163232983-163232984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1333959	chr6:163232994-163232995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535449815	chr6:163233007-163233008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142125535	chr6:163233113-163233114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372195290	chr6:163233141-163233142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555391032	chr6:163233206-163233207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572385048	chr6:163233211-163233212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565278469	chr6:163233250-163233251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1333958	chr6:163233261-163233262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs117521581	chr6:163233377-163233378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543659365	chr6:163233379-163233380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80223363	chr6:163233409-163233410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529043616	chr6:163233417-163233418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192769206	chr6:163233437-163233438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139791533	chr6:163233438-163233439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528109575	chr6:163233442-163233443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551621989	chr6:163233453-163233454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78689646	chr6:163233480-163233481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530688735	chr6:163233485-163233486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550541108	chr6:163233489-163233490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531252563	chr6:163233538-163233539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34191501	chr6:163233545-163233546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183571309	chr6:163233568-163233569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115847442	chr6:163233577-163233578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376501986	chr6:163233578-163233579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114434556	chr6:163233584-163233585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201339593	chr6:163233596-163233597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561695306	chr6:163233610-163233611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528995673	chr6:163233615-163233616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547559295	chr6:163233645-163233646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56807129	chr6:163233651-163233652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77832601	chr6:163233679-163233680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12527227	chr6:163233680-163233681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115865777	chr6:163233736-163233737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537643193	chr6:163233818-163233819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150933262	chr6:163233823-163233824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368663445	chr6:163233824-163233825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371040252	chr6:163233952-163233953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573763109	chr6:163233995-163233996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188698213	chr6:163234010-163234011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528449548	chr6:163234017-163234018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370605937	chr6:163234053-163234054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116244061	chr6:163234054-163234055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163230800-163238400	Weak transcription	Gastric	stomach
2	chr6:163231200-163237800	Weak transcription	Pancreas	Pancrea
3	chr6:163232600-163240000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:163235200-163235600	Weak transcription	Brain Anterior Caudate	brain
5	chr6:163235200-163236000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:163235600-163236000	Active TSS	Brain Anterior Caudate	brain
7	chr6:163235600-163236200	Enhancers	Brain Hippocampus Middle	brain
8	chr6:163236000-163242000	Weak transcription	Brain Anterior Caudate	brain

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