Variant report

Variant	esv3438952
Chromosome Location	chr6:72257531-72262329
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	CEBPB	chr6:72261487-72261985	A549	lung:	n/a	n/a
2	POLR2A	chr6:72261744-72261763	Gliobla	brain:	n/a	n/a
3	RFX5	chr6:72262067-72262213	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GAT2-7	chr6:72260661-72261346	NONHSAT113521

Variant related genes	Relation type
ENSG00000219575	TF binding region

Extended variants
information (count: 224 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540282974	chr6:72257534-72257535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575994891	chr6:72257539-72257540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145971820	chr6:72257555-72257556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77097529	chr6:72257574-72257575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548327485	chr6:72257575-72257576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58603009	chr6:72257577-72257578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111780923	chr6:72257640-72257641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs60059806	chr6:72257650-72257651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185355224	chr6:72257663-72257664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189810250	chr6:72257672-72257673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71555489	chr6:72257682-72257683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112952732	chr6:72257687-72257688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530679001	chr6:72257708-72257709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549364297	chr6:72257710-72257711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567627154	chr6:72257719-72257720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139846170	chr6:72257721-72257722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143397556	chr6:72257730-72257731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60046793	chr6:72257843-72257844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148451353	chr6:72257877-72257878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191650650	chr6:72257893-72257894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59288255	chr6:72257900-72257901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568312219	chr6:72257953-72257954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60517305	chr6:72257969-72257970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs57622272	chr6:72257988-72257989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397699636	chr6:72257991-72257992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533678055	chr6:72258003-72258004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57143006	chr6:72258012-72258013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552648817	chr6:72258030-72258031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184198093	chr6:72258042-72258043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79689331	chr6:72258049-72258050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142733776	chr6:72258061-72258062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60100526	chr6:72258112-72258113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530858066	chr6:72258115-72258116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180935558	chr6:72258166-72258167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151009083	chr6:72258236-72258237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552247220	chr6:72258255-72258256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528489538	chr6:72258309-72258310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547154655	chr6:72258347-72258348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56901034	chr6:72258383-72258384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150242614	chr6:72258384-72258385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142343298	chr6:72258429-72258430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs512790	chr6:72258478-72258479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs147909536	chr6:72258503-72258504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187273192	chr6:72258517-72258518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190566680	chr6:72258538-72258539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548451684	chr6:72258575-72258576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1591228	chr6:72258578-72258579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1582043	chr6:72258593-72258594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79634527	chr6:72258598-72258599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1591229	chr6:72258604-72258605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Gastrointestinal stromal cancer	20818650	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
Developmental delay	21147756	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
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72256200-72261600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:72257400-72257600	Enhancers	Osteobl	bone
3	chr6:72258800-72259800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:72260400-72260600	Enhancers	Aorta	Aorta
5	chr6:72261200-72261400	Enhancers	Aorta	Aorta
6	chr6:72261600-72262000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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