Variant report

Variant	esv1814882
Chromosome Location	chr6:48931729-48935200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:48923639..48925740-chr6:48930258..48932509,2	K562	blood:
2	chr6:48925640..48928560-chr6:48933916..48936835,2	K562	blood:
3	chr6:48930520..48932119-chr6:48937053..48938837,2	MCF-7	breast:

Extended variants
information (count: 124 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554459947	chr6:48931740-48931741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182073047	chr6:48931744-48931745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186711534	chr6:48931785-48931786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564538791	chr6:48931852-48931853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138842713	chr6:48931874-48931875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141740549	chr6:48931880-48931881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192388731	chr6:48931908-48931909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184626181	chr6:48931912-48931913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114141020	chr6:48931914-48931915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147100542	chr6:48931950-48931951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567991910	chr6:48931956-48931957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17637424	chr6:48931959-48931960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547063073	chr6:48931992-48931993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571605618	chr6:48931997-48931998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538615327	chr6:48932003-48932004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138481575	chr6:48932015-48932016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4715118	chr6:48932019-48932020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190529132	chr6:48932024-48932025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554322957	chr6:48932036-48932037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548936002	chr6:48932084-48932085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540129360	chr6:48932101-48932102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144056017	chr6:48932111-48932112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76008233	chr6:48932218-48932219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543831575	chr6:48932240-48932241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562616418	chr6:48932244-48932245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574431559	chr6:48932249-48932250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543269826	chr6:48932312-48932313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544989188	chr6:48932357-48932358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528834773	chr6:48932423-48932424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540049923	chr6:48932508-48932509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193106461	chr6:48932608-48932609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565242462	chr6:48932727-48932728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116208074	chr6:48932767-48932768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185364669	chr6:48932790-48932791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550685574	chr6:48932816-48932817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569363261	chr6:48932842-48932843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536344767	chr6:48932844-48932845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189677687	chr6:48932851-48932852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374340838	chr6:48932881-48932882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200894708	chr6:48932892-48932893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534483426	chr6:48932995-48932996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566341320	chr6:48933009-48933010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115142457	chr6:48933014-48933015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558445713	chr6:48933068-48933069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9463448	chr6:48933070-48933071	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537878724	chr6:48933138-48933139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561079643	chr6:48933418-48933419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112867772	chr6:48933426-48933427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111522682	chr6:48933430-48933431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574737904	chr6:48933440-48933441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48832200-48944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48933000-48933600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:48933400-48934000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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