Variant report

Variant	esv3440779
Chromosome Location	chr4:48451395-48453793
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	chr4:48443452..48446386-chr4:48450705..48452987,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10013539	chr4:48451400-48451401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555063299	chr4:48451497-48451498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76308509	chr4:48451557-48451558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367617961	chr4:48451729-48451730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560562614	chr4:48451736-48451737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186402416	chr4:48451801-48451802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189585058	chr4:48451823-48451824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116627363	chr4:48451853-48451854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13102023	chr4:48451893-48451894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs35455837	chr4:48451956-48451957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531755096	chr4:48451993-48451994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182943530	chr4:48452111-48452112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550851973	chr4:48452148-48452149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568445969	chr4:48452153-48452154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537458724	chr4:48452242-48452243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186164778	chr4:48452275-48452276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547862039	chr4:48452442-48452443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191459649	chr4:48452463-48452464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35742642	chr4:48452494-48452495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59803393	chr4:48452495-48452496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10609352	chr4:48452496-48452497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183199816	chr4:48452531-48452532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149419749	chr4:48452539-48452540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75974035	chr4:48452879-48452880	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs4695378	chr4:48452880-48452881	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569583934	chr4:48452902-48452903	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs188658452	chr4:48452933-48452934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192278277	chr4:48452940-48452941	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534782753	chr4:48452957-48452958	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs143813220	chr4:48453034-48453035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs553232326	chr4:48453044-48453045	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs534464775	chr4:48453051-48453052	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs114275294	chr4:48453073-48453074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs183323093	chr4:48453110-48453111	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187970704	chr4:48453144-48453145	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191234230	chr4:48453154-48453155	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184502277	chr4:48453162-48453163	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs7666422	chr4:48453163-48453164	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10938531	chr4:48453226-48453227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11947271	chr4:48453233-48453234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148152689	chr4:48453249-48453250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529287757	chr4:48453266-48453267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554262235	chr4:48453273-48453274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189326090	chr4:48453310-48453311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192905840	chr4:48453333-48453334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532979833	chr4:48453383-48453384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56287359	chr4:48453385-48453386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200414389	chr4:48453388-48453389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113878051	chr4:48453390-48453391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72153734	chr4:48453396-48453397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	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
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48449000-48452800	Weak transcription	Osteobl	bone
2	chr4:48451000-48451800	Enhancers	HepG2	liver
3	chr4:48451200-48451400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:48451200-48451800	Enhancers	K562	blood
5	chr4:48452200-48457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:48452800-48453200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:48452800-48453200	Flanking Active TSS	Osteobl	bone
8	chr4:48452800-48453400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:48452800-48453600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:48452800-48453600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:48453000-48453600	Enhancers	Fetal Brain Male	brain
12	chr4:48453200-48453600	Enhancers	Osteobl	bone

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