Variant report

Variant	esv3343013
Chromosome Location	chr6:69269931-69271929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:69266569..69269694-chr6:69271036..69273043,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532272163	chr6:69269971-69269972	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs140835059	chr6:69270054-69270055	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs59638198	chr6:69270115-69270116	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs565362381	chr6:69270116-69270117	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs58295336	chr6:69270166-69270167	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554144580	chr6:69270207-69270208	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375039861	chr6:69270224-69270225	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200837571	chr6:69270257-69270258	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs202033757	chr6:69270278-69270279	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs386702383	chr6:69270285-69270286	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548041917	chr6:69270286-69270287	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574416000	chr6:69270298-69270299	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568021214	chr6:69270416-69270417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375643677	chr6:69270477-69270478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9294803	chr6:69270490-69270491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111944161	chr6:69270519-69270520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557161994	chr6:69270542-69270543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2342472	chr6:69270552-69270553	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371107625	chr6:69270587-69270588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375168547	chr6:69270658-69270659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149808374	chr6:69270672-69270673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188267295	chr6:69270678-69270679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368106125	chr6:69270701-69270702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558129049	chr6:69270706-69270707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371700470	chr6:69270716-69270717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4392689	chr6:69270727-69270728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374338131	chr6:69270740-69270741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572434614	chr6:69270741-69270742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386407463	chr6:69270745-69270746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57635606	chr6:69270749-69270750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111808921	chr6:69270756-69270757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28568997	chr6:69270761-69270762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112648837	chr6:69270767-69270768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59597928	chr6:69270778-69270779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116887738	chr6:69270814-69270815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111769596	chr6:69270852-69270853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529363779	chr6:69270888-69270889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs67713608	chr6:69270889-69270890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576839802	chr6:69270890-69270891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150823141	chr6:69270899-69270900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61542213	chr6:69270909-69270910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545851202	chr6:69270927-69270928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559033822	chr6:69270945-69270946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528034148	chr6:69270962-69270963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547830862	chr6:69270992-69270993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376827535	chr6:69270999-69271000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13209126	chr6:69271002-69271003	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs370350391	chr6:69271108-69271109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117181720	chr6:69271125-69271126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116389554	chr6:69271156-69271157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69268800-69270200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr6:69268800-69270400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:69268800-69270400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:69268800-69270400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:69268800-69271200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:69269200-69270200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:69269200-69270400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:69269600-69270000	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr6:69269600-69270000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:69269600-69270200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:69269800-69270400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:69269800-69270400	Enhancers	Brain Germinal Matrix	brain
13	chr6:69269800-69270600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:69269800-69272400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:69270000-69270200	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:69270000-69270400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:69270200-69270400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:69270400-69270600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:69270400-69271000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:69270400-69271600	Weak transcription	Brain Germinal Matrix	brain
21	chr6:69270400-69272000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:69270600-69271600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:69271000-69271200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:69271200-69272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:69271600-69271800	Enhancers	Brain Germinal Matrix	brain
26	chr6:69271600-69272200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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