Variant report

Variant	esv3514848
Chromosome Location	chr6:48930243-48939566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 354 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73737140	chr6:48930267-48930268	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570068526	chr6:48930292-48930293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535471508	chr6:48930296-48930297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139281196	chr6:48930369-48930370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180894054	chr6:48930382-48930383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571797078	chr6:48930435-48930436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565942795	chr6:48930448-48930449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12213551	chr6:48930453-48930454	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558189988	chr6:48930454-48930455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576642977	chr6:48930463-48930464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537087019	chr6:48930476-48930477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555712526	chr6:48930477-48930478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370373228	chr6:48930485-48930486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374288266	chr6:48930520-48930521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185337092	chr6:48930548-48930549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541530771	chr6:48930575-48930576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16878485	chr6:48930623-48930624	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577913042	chr6:48930626-48930627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34955964	chr6:48930651-48930652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545158196	chr6:48930666-48930667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563449988	chr6:48930703-48930704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530816610	chr6:48930739-48930740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146513788	chr6:48930742-48930743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73737141	chr6:48930827-48930828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9395432	chr6:48930865-48930866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs546292277	chr6:48930867-48930868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376802631	chr6:48930869-48930870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570982404	chr6:48930893-48930894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115093538	chr6:48930900-48930901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551936932	chr6:48930914-48930915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143487916	chr6:48930915-48930916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537749632	chr6:48930962-48930963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555521363	chr6:48930963-48930964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16878490	chr6:48930964-48930965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534966851	chr6:48930997-48930998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35468687	chr6:48931006-48931007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553524306	chr6:48931046-48931047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578117154	chr6:48931146-48931147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544909163	chr6:48931170-48931171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563474262	chr6:48931211-48931212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575495904	chr6:48931216-48931217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151025410	chr6:48931267-48931268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190885901	chr6:48931274-48931275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528098055	chr6:48931310-48931311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553958857	chr6:48931315-48931316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73737142	chr6:48931319-48931320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564674364	chr6:48931370-48931371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532213322	chr6:48931374-48931375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183459617	chr6:48931392-48931393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570223980	chr6:48931396-48931397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 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	chr6:48929400-48930800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:48933000-48933600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:48933400-48934000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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