Variant report

Variant	nsv593793
Chromosome Location	chr4:20282334-20333722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20301094..20301849-chr4:20546151..20546964,2	MCF-7	breast:
2	chr4:20318342..20320290-chr4:20322112..20324670,2	K562	blood:
3	chr4:20314844..20315471-chr4:20420114..20421061,2	MCF-7	breast:
4	chr4:20318342..20320290-chr4:20322112..20324670,2	K562	blood:

Extended variants
information (count: 1960 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1960 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16869481	chr4:20282334-20282335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371563964	chr4:20282377-20282378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565235182	chr4:20282448-20282449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565058766	chr4:20282455-20282456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370008355	chr4:20282457-20282458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532230665	chr4:20282461-20282462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11937736	chr4:20282462-20282463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs398051112	chr4:20282472-20282473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573835434	chr4:20282497-20282498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147503246	chr4:20282541-20282542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568620054	chr4:20282558-20282559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374789996	chr4:20282559-20282560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547780362	chr4:20282612-20282613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141634840	chr4:20282621-20282622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534489266	chr4:20282639-20282640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150527410	chr4:20282648-20282649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570995667	chr4:20282672-20282673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371731231	chr4:20282675-20282676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79053067	chr4:20282684-20282685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556650776	chr4:20282687-20282688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574974894	chr4:20282698-20282699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535998947	chr4:20282699-20282700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554185007	chr4:20282702-20282703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186711324	chr4:20282716-20282717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191168937	chr4:20282736-20282737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71607012	chr4:20282739-20282740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71607013	chr4:20282749-20282750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550818917	chr4:20282760-20282761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576931245	chr4:20282839-20282840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543992906	chr4:20282851-20282852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562390743	chr4:20282892-20282893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529720475	chr4:20282929-20282930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547918028	chr4:20282955-20282956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559683129	chr4:20282990-20282991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184810157	chr4:20283060-20283061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17601458	chr4:20283069-20283070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571063870	chr4:20283116-20283117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538568347	chr4:20283154-20283155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142767253	chr4:20283164-20283165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568697388	chr4:20283199-20283200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571095210	chr4:20283212-20283213	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554332064	chr4:20283227-20283228	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189273379	chr4:20283253-20283254	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371256785	chr4:20283359-20283360	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369794626	chr4:20283364-20283365	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539462120	chr4:20283372-20283373	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558173691	chr4:20283460-20283461	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs36086503	chr4:20283477-20283478	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577060133	chr4:20283540-20283541	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150174638	chr4:20283541-20283542	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20258200-20299400	Weak transcription	Fetal Stomach	stomach
2	chr4:20268800-20283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:20269200-20284600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:20273800-20286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:20274600-20285600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:20274600-20286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:20274600-20288600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:20276400-20283000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:20276400-20286000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:20277400-20283000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:20277400-20286400	Weak transcription	Osteobl	bone
12	chr4:20278400-20284400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:20278600-20283000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:20278600-20283400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:20278600-20283400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:20278800-20283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:20278800-20290400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:20278800-20298000	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:20281000-20282800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:20281400-20282600	Enhancers	Fetal Lung	lung
21	chr4:20281400-20282800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:20281400-20283200	Weak transcription	NHDF-Ad	bronchial
23	chr4:20281400-20285600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:20281600-20283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:20281800-20282800	Weak transcription	NHEK	skin
26	chr4:20281800-20294000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr4:20282200-20283600	Enhancers	Fetal Kidney	kidney
28	chr4:20282200-20286000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:20282600-20283000	Weak transcription	Fetal Lung	lung
30	chr4:20282800-20283800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:20282800-20283800	Enhancers	NHEK	skin
32	chr4:20282800-20284600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:20282800-20285800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:20283000-20283200	Enhancers	Fetal Lung	lung
35	chr4:20283000-20283400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr4:20283000-20283400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:20283000-20283400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:20283000-20283400	Enhancers	HMEC	breast
39	chr4:20283000-20283600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:20283000-20284600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:20283000-20286800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:20283000-20287200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:20283000-20287400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:20283200-20283400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr4:20283200-20283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:20283200-20284000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:20283200-20284000	Strong transcription	NHDF-Ad	bronchial
48	chr4:20283200-20284600	Weak transcription	Fetal Lung	lung
49	chr4:20283200-20284800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:20283200-20285800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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