Variant report

Variant	nsv980156
Chromosome Location	chr4:143416059-143418605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143413858..143417605-chr4:143417638..143420686,5	MCF-7	breast:
2	chr4:143392241..143398966-chr4:143412985..143424496,30	MCF-7	breast:
3	chr4:143413858..143417605-chr4:143417638..143420686,5	MCF-7	breast:
4	chr4:143417636..143419630-chr4:143766878..143768901,2	MCF-7	breast:
5	chr4:143388381..143398737-chr4:143415738..143428678,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192337953	chr4:143416074-143416075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535423588	chr4:143416090-143416091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550546240	chr4:143416092-143416093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182847276	chr4:143416148-143416149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186038628	chr4:143416176-143416177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34580031	chr4:143416179-143416180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75738796	chr4:143416192-143416193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557910127	chr4:143416224-143416225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577466903	chr4:143416261-143416262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565620538	chr4:143416327-143416328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190010030	chr4:143416328-143416329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553334172	chr4:143416394-143416395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575076408	chr4:143416415-143416416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574365408	chr4:143416439-143416440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532701375	chr4:143416459-143416460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541882176	chr4:143416514-143416515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557306684	chr4:143416548-143416549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182662213	chr4:143416632-143416633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114383778	chr4:143416641-143416642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113453962	chr4:143416667-143416668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs57724540	chr4:143416676-143416677	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528231276	chr4:143416714-143416715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540029231	chr4:143416782-143416783	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368406373	chr4:143416801-143416802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562758351	chr4:143416830-143416831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148922924	chr4:143416845-143416846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530494899	chr4:143416878-143416879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs17016229	chr4:143416885-143416886	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs17016233	chr4:143416900-143416901	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188334739	chr4:143416941-143416942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190679642	chr4:143416967-143416968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551455434	chr4:143417006-143417007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143735012	chr4:143417025-143417026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533924418	chr4:143417034-143417035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553511256	chr4:143417052-143417053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559996506	chr4:143417061-143417062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs527445378	chr4:143417092-143417093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546281183	chr4:143417106-143417107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148110540	chr4:143417135-143417136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536109540	chr4:143417136-143417137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529679842	chr4:143417139-143417140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78298878	chr4:143417143-143417144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575193435	chr4:143417198-143417199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182871372	chr4:143417207-143417208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557769827	chr4:143417224-143417225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1364926	chr4:143417246-143417247	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs145908511	chr4:143417271-143417272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561888770	chr4:143417273-143417274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529100861	chr4:143417281-143417282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373639659	chr4:143417289-143417290	Weak transcription	Chromatin interactive region	1 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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143401800-143418600	Weak transcription	Fetal Heart	heart
2	chr4:143414600-143416200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:143415400-143419000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:143418000-143418200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:143418000-143418400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:143418400-143419000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:143418400-143419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:143418600-143419200	Enhancers	Fetal Heart	heart

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