Variant report

Variant	esv2759238
Chromosome Location	chr4:28233304-28237998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 207 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1497692	chr4:28233304-28233305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537585164	chr4:28233305-28233306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112145189	chr4:28233309-28233310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571116363	chr4:28233320-28233321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1497691	chr4:28233327-28233328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141392644	chr4:28233342-28233343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61794099	chr4:28233372-28233373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527930132	chr4:28233375-28233376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554078947	chr4:28233384-28233385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548089915	chr4:28233401-28233402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150905350	chr4:28233417-28233418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533552817	chr4:28233453-28233454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184578085	chr4:28233455-28233456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4452420	chr4:28233491-28233492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7436714	chr4:28233634-28233635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548523834	chr4:28233638-28233639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565360119	chr4:28233641-28233642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386672846	chr4:28233642-28233643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7437497	chr4:28233643-28233644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188273662	chr4:28233660-28233661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35221278	chr4:28233667-28233668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375132816	chr4:28233669-28233670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541146592	chr4:28233672-28233673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576567698	chr4:28233676-28233677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542344115	chr4:28233683-28233684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139227355	chr4:28233692-28233693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572417829	chr4:28233693-28233694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368033077	chr4:28233707-28233708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542454772	chr4:28233714-28233715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180788936	chr4:28233715-28233716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144051890	chr4:28233766-28233767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186431252	chr4:28233804-28233805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200875036	chr4:28233817-28233818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530200106	chr4:28233836-28233837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190884303	chr4:28233854-28233855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528928094	chr4:28233876-28233877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548685715	chr4:28233917-28233918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113573129	chr4:28233930-28233931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12108652	chr4:28233943-28233944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528067585	chr4:28233968-28233969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551138992	chr4:28234019-28234020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532843910	chr4:28234033-28234034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181935418	chr4:28234153-28234154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537354952	chr4:28234155-28234156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10939200	chr4:28234182-28234183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374739179	chr4:28234190-28234191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565657193	chr4:28234284-28234285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200673887	chr4:28234355-28234356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145721924	chr4:28234356-28234357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35881635	chr4:28234357-28234358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
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
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28229000-28234800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:28231200-28235600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:28231200-28240600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:28231400-28234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:28231600-28233800	Weak transcription	NHEK	skin
6	chr4:28231800-28233600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:28231800-28234000	Weak transcription	HMEC	breast
8	chr4:28232000-28234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:28232000-28234200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:28232000-28239800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:28233200-28233400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:28233600-28235000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:28233800-28235000	Enhancers	NHEK	skin
14	chr4:28234000-28234800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:28234000-28235000	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:28234000-28235000	Enhancers	HMEC	breast
17	chr4:28234000-28236000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:28234200-28234400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:28234800-28235000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:28235000-28240000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:28235000-28279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:28235600-28236800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:28235800-28236600	Enhancers	Fetal Heart	heart
24	chr4:28237600-28238000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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