Variant report

Variant	esv20259
Chromosome Location	chr6:73918942-73919882
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	ESR1	chr6:73919342-73919610	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73917306..73919203-chr6:73947739..73949540,2	K562	blood:
2	chr6:73919854..73922252-chr6:73925613..73927312,3	K562	blood:

Variant related genes	Relation type
KHDC1P1	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540059646	chr6:73918949-73918950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564692576	chr6:73918969-73918970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1974370	chr6:73918981-73918982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576736623	chr6:73918985-73918986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2350377	chr6:73918987-73918988	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562551820	chr6:73918988-73918989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3897515	chr6:73919000-73919001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2350376	chr6:73919032-73919033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150953142	chr6:73919035-73919036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527330526	chr6:73919066-73919067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552811378	chr6:73919086-73919087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2350375	chr6:73919087-73919088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538583770	chr6:73919100-73919101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528894700	chr6:73919103-73919104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576265164	chr6:73919122-73919123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550472233	chr6:73919133-73919134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35101010	chr6:73919171-73919172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs947749	chr6:73919172-73919173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554108733	chr6:73919224-73919225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572450984	chr6:73919258-73919259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539507749	chr6:73919267-73919268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs5877360	chr6:73919301-73919302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558373538	chr6:73919305-73919306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576626670	chr6:73919354-73919355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544129830	chr6:73919389-73919390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556172180	chr6:73919444-73919445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35125451	chr6:73919446-73919447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574644816	chr6:73919453-73919454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541460739	chr6:73919456-73919457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12215253	chr6:73919463-73919464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527421830	chr6:73919467-73919468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551898365	chr6:73919527-73919528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186883858	chr6:73919564-73919565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2882403	chr6:73919573-73919574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550362763	chr6:73919588-73919589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568680824	chr6:73919590-73919591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529545058	chr6:73919605-73919606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4640856	chr6:73919612-73919613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2882402	chr6:73919713-73919714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4301273	chr6:73919726-73919727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149659119	chr6:73919729-73919730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541655823	chr6:73919747-73919748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555106494	chr6:73919750-73919751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76989579	chr6:73919755-73919756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556298620	chr6:73919756-73919757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192765141	chr6:73919776-73919777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542094999	chr6:73919805-73919806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574613235	chr6:73919826-73919827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145468763	chr6:73919843-73919844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572047187	chr6:73919852-73919853	Weak transcription Enhancers	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73913400-73919600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:73916200-73919400	Enhancers	Stomach Mucosa	stomach
3	chr6:73916200-73933800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:73919400-73920800	Weak transcription	Stomach Mucosa	stomach
5	chr6:73919600-73920000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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