Variant report

Variant	nsv1001485
Chromosome Location	chr4:19585423-19655316
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: 481 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16868608	chr4:19585423-19585424	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527508400	chr4:19585444-19585445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557547750	chr4:19585522-19585523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187246872	chr4:19585533-19585534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77721350	chr4:19585541-19585542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371302651	chr4:19585586-19585587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11728526	chr4:19585621-19585622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191616531	chr4:19585639-19585640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183821278	chr4:19585642-19585643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188248013	chr4:19585694-19585695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567889893	chr4:19585721-19585722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11933898	chr4:19585771-19585772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148541881	chr4:19585779-19585780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572774589	chr4:19585780-19585781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142910437	chr4:19585781-19585782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545411179	chr4:19585782-19585783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540475722	chr4:19585797-19585798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563612912	chr4:19585799-19585800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151094780	chr4:19585810-19585811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193149371	chr4:19585840-19585841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71605372	chr4:19585876-19585877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17508269	chr4:19585885-19585886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143956598	chr4:19585907-19585908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16868613	chr4:19585942-19585943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185594678	chr4:19585949-19585950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79895843	chr4:19585970-19585971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs66879973	chr4:19585978-19585979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs113903831	chr4:19585984-19585985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201749086	chr4:19585999-19586000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192693505	chr4:19593641-19593642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577474072	chr4:19593717-19593718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200075803	chr4:19593736-19593737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200011397	chr4:19593738-19593739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs386672293	chr4:19593757-19593758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201734108	chr4:19593760-19593761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs115918281	chr4:19593761-19593762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556507675	chr4:19593764-19593765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376030767	chr4:19593765-19593766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs75908871	chr4:19593778-19593779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201339080	chr4:19593783-19593784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs535454163	chr4:19593784-19593785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs377403119	chr4:19593787-19593788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs199993530	chr4:19593795-19593796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs71179239	chr4:19593804-19593805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553131190	chr4:19593819-19593820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370193287	chr4:19593823-19593824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs374723910	chr4:19593846-19593847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113737830	chr4:19593850-19593851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540783873	chr4:19593862-19593863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs376365574	chr4:19593874-19593875	ZNF genes & repeats	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	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19582200-19585600	Weak transcription	Adipose Nuclei	Adipose
2	chr4:19585400-19585800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:19585400-19586000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:19585600-19585800	Enhancers	Adipose Nuclei	Adipose
5	chr4:19585600-19585800	Enhancers	Psoas Muscle	Psoas
6	chr4:19593600-19594000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:19594000-19594600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:19594000-19594800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:19594200-19594600	Enhancers	Hela-S3	cervix
10	chr4:19599200-19600600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:19600000-19600600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:19600200-19600600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:19604800-19607200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:19615800-19616400	Enhancers	NHEK	skin
15	chr4:19616000-19616600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:19616000-19617000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:19616000-19617000	Enhancers	HMEC	breast
18	chr4:19616600-19617200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:19616600-19617400	ZNF genes & repeats	Aorta	Aorta
20	chr4:19616600-19617600	Enhancers	Dnd41	blood
21	chr4:19624000-19624400	Enhancers	Dnd41	blood
22	chr4:19625400-19626000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:19630800-19631600	Enhancers	Fetal Lung	lung
24	chr4:19630800-19632000	Enhancers	Fetal Kidney	kidney
25	chr4:19631200-19631800	Enhancers	Colon Smooth Muscle	Colon
26	chr4:19631400-19631800	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:19636200-19636400	Enhancers	Aorta	Aorta
28	chr4:19638000-19638800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:19652600-19652800	Enhancers	NHDF-Ad	bronchial
30	chr4:19652800-19653200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:19652800-19653200	Active TSS	NHDF-Ad	bronchial
32	chr4:19653200-19654000	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links