Variant report

Variant	esv2576648
Chromosome Location	chr4:47161080-47162501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376140266	chr4:47161098-47161099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144207856	chr4:47161103-47161104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545177833	chr4:47161131-47161132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563521804	chr4:47161133-47161134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148857159	chr4:47161141-47161142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397993257	chr4:47161151-47161152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544541357	chr4:47161182-47161183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112173897	chr4:47161209-47161210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112776748	chr4:47161210-47161211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562233104	chr4:47161212-47161213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532937838	chr4:47161214-47161215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529236734	chr4:47161224-47161225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547775345	chr4:47161231-47161232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13145397	chr4:47161259-47161260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192476467	chr4:47161286-47161287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533490077	chr4:47161343-47161344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147424225	chr4:47161361-47161362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139209010	chr4:47161406-47161407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35740445	chr4:47161446-47161447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59893093	chr4:47161470-47161471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548642746	chr4:47161501-47161502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376406326	chr4:47161522-47161523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200470409	chr4:47161527-47161528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77370086	chr4:47161529-47161530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1542097	chr4:47161567-47161568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552936823	chr4:47161571-47161572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184780403	chr4:47161581-47161582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189075865	chr4:47161606-47161607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557169566	chr4:47161607-47161608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575481999	chr4:47161620-47161621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149927162	chr4:47161659-47161660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537363875	chr4:47161731-47161732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574080636	chr4:47161769-47161770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115662723	chr4:47161818-47161819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559736271	chr4:47161835-47161836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533432714	chr4:47161843-47161844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545324677	chr4:47161856-47161857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563662725	chr4:47161904-47161905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529381255	chr4:47161920-47161921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566387455	chr4:47161957-47161958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555880502	chr4:47162012-47162013	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549564373	chr4:47162048-47162049	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567203424	chr4:47162061-47162062	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs549217865	chr4:47162096-47162097	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs569038689	chr4:47162168-47162169	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538151164	chr4:47162178-47162179	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs567771806	chr4:47162189-47162190	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs546270727	chr4:47162246-47162247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553450686	chr4:47162296-47162297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551337520	chr4:47162300-47162301	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47158600-47161800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr4:47158800-47161200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:47160000-47161200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:47161200-47162000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr4:47161200-47163200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr4:47161800-47162400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:47161800-47163000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:47162000-47162200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:47162200-47162400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr4:47162400-47162600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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