Variant report

Variant	esv3363364
Chromosome Location	chr6:34225524-34227597
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	chr6:34213271..34216140-chr6:34224138..34225758,2	K562	blood:
2	chr6:34213271..34215181-chr6:34223705..34225638,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550657204	chr6:34225580-34225581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569378110	chr6:34225584-34225585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540007201	chr6:34225597-34225598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371377069	chr6:34225598-34225599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201331305	chr6:34225599-34225600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377764575	chr6:34225600-34225601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377490954	chr6:34225603-34225604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200036606	chr6:34225605-34225606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370150870	chr6:34225606-34225607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551647725	chr6:34225625-34225626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567174034	chr6:34225663-34225664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190254461	chr6:34225703-34225704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555408511	chr6:34225719-34225720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58465667	chr6:34225765-34225766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573678851	chr6:34225823-34225824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537970054	chr6:34225858-34225859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556279824	chr6:34225872-34225873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2483211	chr6:34225931-34225932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs182476848	chr6:34226018-34226019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537708634	chr6:34226023-34226024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9461971	chr6:34226043-34226044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560043374	chr6:34226058-34226059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200474889	chr6:34226060-34226061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572314511	chr6:34226112-34226113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542504129	chr6:34226173-34226174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529446759	chr6:34226186-34226187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561792485	chr6:34226217-34226218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573792775	chr6:34226232-34226233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185890539	chr6:34226236-34226237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9469751	chr6:34226251-34226252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9357175	chr6:34226337-34226338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9366847	chr6:34226352-34226353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9366848	chr6:34226353-34226354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551951208	chr6:34226361-34226362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566908755	chr6:34226391-34226392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3997804	chr6:34226393-34226394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71000043	chr6:34226394-34226395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534534629	chr6:34226395-34226396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549680362	chr6:34226396-34226397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561447707	chr6:34226399-34226400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139485250	chr6:34226403-34226404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189874077	chr6:34226410-34226411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202128889	chr6:34226446-34226447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28888151	chr6:34226447-34226448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28751028	chr6:34226456-34226457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28818270	chr6:34226460-34226461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36148938	chr6:34226479-34226480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376005135	chr6:34226480-34226481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28870205	chr6:34226481-34226482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182512750	chr6:34226509-34226510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34218000-34228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:34218200-34230600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:34218200-34255000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:34223400-34228400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:34225800-34226800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:34226800-34227000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:34227000-34241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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