Variant report

Variant	esv3431830
Chromosome Location	chr6:167196262-167198660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167187491..167191588-chr6:167191761..167196442,4	K562	blood:
2	chr6:167187491..167189760-chr6:167193508..167196442,3	K562	blood:
3	chr6:167198453..167200233-chr6:167409946..167412844,2	K562	blood:

Variant related genes	Relation type
ENSG00000265828	chromatin interactions
ENSG00000227598	chromatin interactions
ENSG00000213066	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs6415092	chr6:167196263-167196264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77688808	chr6:167196301-167196302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138263532	chr6:167196324-167196325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6456126	chr6:167196327-167196328	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149593319	chr6:167196380-167196381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6456127	chr6:167196403-167196404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537542299	chr6:167196407-167196408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10556799	chr6:167196413-167196414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398066496	chr6:167196419-167196420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13204401	chr6:167196499-167196500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549988571	chr6:167196516-167196517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11970352	chr6:167196535-167196536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371335108	chr6:167196537-167196538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71686287	chr6:167196567-167196568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370184338	chr6:167196583-167196584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549852227	chr6:167196661-167196662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554126146	chr6:167196665-167196666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189955674	chr6:167196731-167196732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs845643	chr6:167196776-167196777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547628399	chr6:167196797-167196798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75807187	chr6:167196798-167196799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181222694	chr6:167196801-167196802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184639341	chr6:167196847-167196848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562720665	chr6:167196882-167196883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577734376	chr6:167196982-167196983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545290961	chr6:167196990-167196991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560146940	chr6:167197018-167197019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527572023	chr6:167197026-167197027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189155457	chr6:167197029-167197030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373917699	chr6:167197035-167197036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181953000	chr6:167197041-167197042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531338019	chr6:167197065-167197066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374839616	chr6:167197112-167197113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76460446	chr6:167197116-167197117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10455810	chr6:167197129-167197130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146300319	chr6:167197131-167197132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547963354	chr6:167197132-167197133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112151544	chr6:167197159-167197160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566294292	chr6:167197161-167197162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536924127	chr6:167197163-167197164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115690076	chr6:167197183-167197184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555038310	chr6:167197188-167197189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576471927	chr6:167197196-167197197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537566244	chr6:167197213-167197214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139985824	chr6:167197221-167197222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186328936	chr6:167197223-167197224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9459750	chr6:167197231-167197232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190722335	chr6:167197236-167197237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374191599	chr6:167197251-167197252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201300363	chr6:167197254-167197255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Autism	22549408	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167182200-167218600	Weak transcription	Right Atrium	heart
2	chr6:167196200-167196400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr6:167196400-167198600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:167196800-167197000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:167198400-167198800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:167198600-167198800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:167198600-167198800	Enhancers	Brain Inferior Temporal Lobe	brain

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