Variant report

Variant	esv3396945
Chromosome Location	chr6:161089653-161090019
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	CTCF	chr6:161089715-161089757	NHEK	skin:	n/a	n/a
2	CTCF	chr6:161089640-161089790	HepG2	liver:	n/a	n/a
3	CTCF	chr6:161089884-161089980	GM19239	blood:	n/a	n/a
4	CTCF	chr6:161089703-161089766	Gliobla	brain:	n/a	n/a
5	CTCF	chr6:161089689-161089809	GM19239	blood:	n/a	n/a
6	TCF12	chr6:161089620-161090344	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:161080728..161083245-chr6:161087740..161089889,2	MCF-7	breast:
2	chr6:160939583..160942817-chr6:161087432..161090286,3	K562	blood:
3	chr6:160940535..160941592-chr6:161088101..161089900,7	K562	blood:

Variant related genes	Relation type
LPA	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74658762	chr6:161089710-161089711	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529466025	chr6:161089711-161089712	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374625227	chr6:161089742-161089743	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs369533041	chr6:161089756-161089757	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs549132101	chr6:161089760-161089761	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs386707835	chr6:161089761-161089762	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs566041353	chr6:161089794-161089795	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112784571	chr6:161089805-161089806	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs112466791	chr6:161089808-161089809	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571587711	chr6:161089812-161089813	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs1084651	chr6:161089817-161089818	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
12	rs570227944	chr6:161089826-161089827	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201168950	chr6:161089833-161089834	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374617125	chr6:161089838-161089839	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs373690261	chr6:161089846-161089847	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs376666595	chr6:161089848-161089849	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs369225367	chr6:161089850-161089851	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs199561955	chr6:161089856-161089857	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373491127	chr6:161089859-161089860	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs369976264	chr6:161089860-161089861	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs56361972	chr6:161089864-161089865	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs62639071	chr6:161089867-161089868	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs56287723	chr6:161089871-161089872	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs56331106	chr6:161089873-161089874	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs55693212	chr6:161089879-161089880	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs56199534	chr6:161089888-161089889	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs56148667	chr6:161089896-161089897	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs377472463	chr6:161089901-161089902	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370266863	chr6:161089902-161089903	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs537432859	chr6:161089903-161089904	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs55952384	chr6:161089914-161089915	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs374713402	chr6:161089915-161089916	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs62650397	chr6:161089917-161089918	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs62650398	chr6:161089928-161089929	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs56039823	chr6:161089929-161089930	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs55890266	chr6:161089935-161089936	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs55919799	chr6:161089936-161089937	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs56062919	chr6:161089948-161089949	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs369063497	chr6:161089949-161089950	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150107289	chr6:161089951-161089952	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs148819844	chr6:161089952-161089953	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs55718737	chr6:161089955-161089956	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs62650400	chr6:161089957-161089958	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs62650401	chr6:161089960-161089961	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs62650402	chr6:161089965-161089966	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs578028333	chr6:161089973-161089974	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62650403	chr6:161089978-161089979	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs62650404	chr6:161089981-161089982	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs56365501	chr6:161089986-161089987	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs62650405	chr6:161089987-161089988	ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Weak transcription	TF binding region	1 gene(s)	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	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
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161084200-161089800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:161087600-161100200	Weak transcription	Right Atrium	heart
3	chr6:161089400-161089800	Weak transcription	Liver	Liver
4	chr6:161089600-161090000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr6:161089600-161090200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
6	chr6:161089800-161090200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:161089800-161090200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
8	chr6:161089800-161090200	Active TSS	Fetal Kidney	kidney
9	chr6:161089800-161091000	Strong transcription	Liver	Liver

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