Variant report

Variant	esv3322009
Chromosome Location	chr4:103383028-103387326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103384330..103386465-chr4:103747520..103749922,2	K562	blood:
2	chr4:103382290..103384399-chr4:103421531..103423873,2	MCF-7	breast:
3	chr4:103385795..103388292-chr4:103422546..103424148,2	K562	blood:
4	chr4:103385691..103388177-chr4:103389078..103391439,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NFKB1-1	chr4:103382407-103383309	NONHSAT097589

Variant related genes	Relation type
ENSG00000260651	chromatin interactions
ENSG00000246560	chromatin interactions
ENSG00000109332	chromatin interactions
ENSG00000109320	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536715845	chr4:103383039-103383040	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs547807238	chr4:103383060-103383061	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs548118394	chr4:103383096-103383097	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs17008528	chr4:103383107-103383108	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs55707252	chr4:103383228-103383229	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs77311063	chr4:103383230-103383231	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs183865603	chr4:103383258-103383259	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs188862307	chr4:103383266-103383267	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs537448534	chr4:103383273-103383274	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs556095501	chr4:103383307-103383308	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs574484062	chr4:103383322-103383323	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541888603	chr4:103383324-103383325	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs561372262	chr4:103383466-103383467	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs144951608	chr4:103383471-103383472	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs140854434	chr4:103383475-103383476	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565580925	chr4:103383479-103383480	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144613162	chr4:103383483-103383484	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567930198	chr4:103383515-103383516	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550318621	chr4:103383516-103383517	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550715863	chr4:103383521-103383522	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs369920691	chr4:103383558-103383559	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs193042081	chr4:103383565-103383566	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs17032663	chr4:103383580-103383581	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548659510	chr4:103383583-103383584	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs10014309	chr4:103383589-103383590	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369077989	chr4:103383590-103383591	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs141509211	chr4:103383616-103383617	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs570433288	chr4:103383633-103383634	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs537711846	chr4:103383676-103383677	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572514733	chr4:103383703-103383704	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs143418533	chr4:103383708-103383709	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11721880	chr4:103383709-103383710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574373368	chr4:103383713-103383714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368881403	chr4:103383773-103383774	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373536426	chr4:103383833-103383834	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs77002140	chr4:103383843-103383844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538697454	chr4:103383844-103383845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs115547957	chr4:103383852-103383853	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs565765371	chr4:103383855-103383856	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550957889	chr4:103383891-103383892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540851295	chr4:103383899-103383900	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs184474190	chr4:103383901-103383902	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577644230	chr4:103383914-103383915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544866586	chr4:103383963-103383964	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs187612328	chr4:103383999-103384000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs60893529	chr4:103384087-103384088	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191775702	chr4:103384098-103384099	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148374810	chr4:103384115-103384116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs184321162	chr4:103384139-103384140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs551967664	chr4:103384140-103384141	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103381400-103387600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:103383000-103383600	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr4:103383400-103383600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr4:103383600-103385600	Weak transcription	Primary T cells from cord blood	blood
5	chr4:103385400-103387600	Enhancers	Dnd41	blood
6	chr4:103385600-103386800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr4:103385600-103387800	Enhancers	Primary T cells from cord blood	blood
8	chr4:103385800-103386600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:103386000-103386600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:103386000-103386600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:103386000-103386600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr4:103386000-103386600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr4:103386000-103386600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:103386000-103386800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr4:103386000-103387000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:103386000-103388200	Enhancers	HUVEC	blood vessel
17	chr4:103386200-103386600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:103386200-103386600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:103386600-103387000	Enhancers	HepG2	liver
20	chr4:103386600-103390600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:103386600-103390600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:103386600-103390600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:103386600-103390600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:103386600-103390600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:103386600-103390800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:103386600-103390800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:103386800-103390200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:103386800-103390800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:103387000-103387400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:103387200-103387600	Enhancers	NHEK	skin

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