Variant report

Variant	nsv4262
Chromosome Location	chr4:19240436-19284662
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	chr4:19258834..19261386-chr4:19628228..19629933,2	K562	blood:

Extended variants
information (count: 848 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555778722	chr4:19240465-19240466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567945176	chr4:19240467-19240468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111425569	chr4:19240468-19240469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568712657	chr4:19240472-19240473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369311528	chr4:19240477-19240478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553801704	chr4:19240496-19240497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572265468	chr4:19240497-19240498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537905852	chr4:19240549-19240550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555657569	chr4:19240586-19240587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557983786	chr4:19240605-19240606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576652546	chr4:19240612-19240613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543919883	chr4:19240633-19240634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562143171	chr4:19240659-19240660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533518017	chr4:19240679-19240680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397880367	chr4:19240681-19240682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58471044	chr4:19240701-19240702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529294576	chr4:19240757-19240758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112041824	chr4:19240767-19240768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186061479	chr4:19240774-19240775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75607637	chr4:19240825-19240826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377575305	chr4:19240919-19240920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143860071	chr4:19240937-19240938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569903819	chr4:19240986-19240987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571277792	chr4:19241001-19241002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371045098	chr4:19241058-19241059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531336313	chr4:19241079-19241080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549587998	chr4:19241086-19241087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568117153	chr4:19241104-19241105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535115800	chr4:19241215-19241216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190377893	chr4:19241230-19241231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566029844	chr4:19241248-19241249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539738116	chr4:19241261-19241262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533961910	chr4:19241323-19241324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558019100	chr4:19241348-19241349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538053903	chr4:19241349-19241350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182592291	chr4:19241363-19241364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139777939	chr4:19241373-19241374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555596884	chr4:19241378-19241379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79280891	chr4:19241381-19241382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541068693	chr4:19241408-19241409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187062974	chr4:19241457-19241458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191089211	chr4:19241476-19241477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545279116	chr4:19241523-19241524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563564655	chr4:19241525-19241526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531029250	chr4:19241561-19241562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549519420	chr4:19241572-19241573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561634720	chr4:19241588-19241589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528982490	chr4:19241600-19241601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80155584	chr4:19241619-19241620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182375462	chr4:19241655-19241656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19240000-19241200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:19240200-19241800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:19240600-19241600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:19240800-19241200	Enhancers	NH-A	brain
5	chr4:19240800-19241600	Enhancers	Osteobl	bone
6	chr4:19240800-19241800	Enhancers	NHEK	skin
7	chr4:19241000-19241400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:19241200-19243600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:19241600-19242600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:19241800-19243000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:19242800-19243000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:19242800-19243000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:19243000-19243200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:19243600-19243800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:19243600-19244000	Enhancers	Fetal Lung	lung
16	chr4:19243600-19244000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr4:19247800-19248000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:19248000-19253400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:19256000-19256600	Active TSS	Fetal Brain Male	brain
20	chr4:19256000-19256600	Enhancers	Fetal Lung	lung
21	chr4:19256600-19259600	Weak transcription	Fetal Brain Male	brain
22	chr4:19258200-19259400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:19258200-19259400	Enhancers	Fetal Intestine Small	intestine
24	chr4:19258400-19259000	Enhancers	NHEK	skin
25	chr4:19258400-19259400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:19261600-19262000	Enhancers	Fetal Lung	lung
27	chr4:19261600-19262200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:19261600-19262400	Enhancers	Fetal Stomach	stomach
29	chr4:19262000-19264200	Weak transcription	Fetal Lung	lung
30	chr4:19263800-19264200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:19263800-19264200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:19263800-19264200	Enhancers	HUVEC	blood vessel
33	chr4:19264000-19264200	Enhancers	Osteobl	bone
34	chr4:19264200-19264600	Active TSS	Ovary	ovary
35	chr4:19264200-19264600	Flanking Active TSS	HUVEC	blood vessel
36	chr4:19264200-19264600	Active TSS	NHLF	lung
37	chr4:19264200-19264800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:19264200-19264800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:19264200-19264800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:19264200-19264800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:19264200-19264800	Active TSS	Right Atrium	heart
42	chr4:19264200-19264800	Active TSS	Osteobl	bone
43	chr4:19264200-19265000	Enhancers	Fetal Lung	lung
44	chr4:19264400-19264800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr4:19264600-19264800	Enhancers	NHLF	lung
46	chr4:19264800-19268400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:19267000-19267200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:19267200-19268400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:19267400-19267800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr4:19267800-19268200	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links