Variant report

Variant	esv3337260
Chromosome Location	chr6:73924581-73926529
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	chr6:73925640-73925790	HEK293	kidney:	n/a	n/a
2	CTCF	chr6:73925740-73925890	AoAF	blood vessel:	n/a	n/a
3	CTCF	chr6:73925760-73925910	HCFaa	heart:	n/a	n/a
4	CTCF	chr6:73925760-73925910	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr6:73925760-73925910	AoAF	blood vessel:	n/a	n/a
6	MYC	chr6:73925229-73925261	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73919854..73922252-chr6:73925613..73927312,3	K562	blood:

Variant related genes	Relation type
KHDC1P1	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12214787	chr6:73924628-73924629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370078527	chr6:73924648-73924649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571184588	chr6:73924697-73924698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147636174	chr6:73924753-73924754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192440681	chr6:73924774-73924775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568421265	chr6:73924785-73924786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535621189	chr6:73924789-73924790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553841007	chr6:73924790-73924791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375857510	chr6:73924835-73924836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533741377	chr6:73924840-73924841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558301553	chr6:73924851-73924852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577078281	chr6:73924852-73924853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143706673	chr6:73924853-73924854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368546189	chr6:73924854-73924855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397518239	chr6:73924864-73924865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67158475	chr6:73924865-73924866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555912692	chr6:73924886-73924887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs68173856	chr6:73924919-73924920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9360653	chr6:73924930-73924931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559581306	chr6:73924948-73924949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142298771	chr6:73924992-73924993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184666034	chr6:73925017-73925018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2350751	chr6:73925096-73925097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531941212	chr6:73925112-73925113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550445810	chr6:73925113-73925114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561981013	chr6:73925127-73925128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529297655	chr6:73925180-73925181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374276654	chr6:73925182-73925183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565856777	chr6:73925240-73925241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9343021	chr6:73925268-73925269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145571293	chr6:73925294-73925295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs70994174	chr6:73925335-73925336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200014046	chr6:73925342-73925343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201721924	chr6:73925357-73925358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9343022	chr6:73925360-73925361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372264837	chr6:73925361-73925362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71541131	chr6:73925375-73925376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113293813	chr6:73925377-73925378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369439365	chr6:73925383-73925384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145832718	chr6:73925385-73925386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148942988	chr6:73925387-73925388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201301457	chr6:73925398-73925399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58805522	chr6:73925438-73925439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13190827	chr6:73925445-73925446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55722287	chr6:73925449-73925450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60757455	chr6:73925451-73925452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9343023	chr6:73925458-73925459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9343024	chr6:73925459-73925460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62411437	chr6:73925461-73925462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9351983	chr6:73925465-73925466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73916200-73933800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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