Variant report

Variant	nsv967783
Chromosome Location	chr4:110515412-110517820
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	chr4:110514334..110516170-chr4:110623778..110626132,2	MCF-7	breast:
2	chr4:110509145..110511700-chr4:110513423..110515764,2	K562	blood:

Variant related genes	Relation type
ENSG00000138794	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372330437	chr4:110515455-110515456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374120085	chr4:110515465-110515466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149800	chr4:110515471-110515472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs197230	chr4:110515484-110515485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs572421290	chr4:110515510-110515511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116941850	chr4:110515514-110515515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs6851009	chr4:110515561-110515562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577973634	chr4:110515564-110515565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559126954	chr4:110515639-110515640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558432481	chr4:110515641-110515642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543886107	chr4:110515647-110515648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563567069	chr4:110515668-110515669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190864177	chr4:110515690-110515691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150052453	chr4:110515739-110515740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112789920	chr4:110515746-110515747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559512347	chr4:110515747-110515748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528131183	chr4:110515763-110515764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532028081	chr4:110515813-110515814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34929729	chr4:110515814-110515815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551456587	chr4:110515832-110515833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147780104	chr4:110515842-110515843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530414034	chr4:110515874-110515875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541311733	chr4:110515919-110515920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146074406	chr4:110515928-110515929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372116224	chr4:110515931-110515932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566721839	chr4:110515936-110515937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550194845	chr4:110515941-110515942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569992277	chr4:110515980-110515981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201655116	chr4:110516010-110516011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368479274	chr4:110516011-110516012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs117542081	chr4:110516032-110516033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369514852	chr4:110516054-110516055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182238103	chr4:110516075-110516076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187445418	chr4:110516115-110516116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141098594	chr4:110516151-110516152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574472988	chr4:110516296-110516297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537429457	chr4:110516335-110516336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192958123	chr4:110516361-110516362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182832294	chr4:110516389-110516390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188202077	chr4:110516393-110516394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542914074	chr4:110516400-110516401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146969009	chr4:110516460-110516461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78512592	chr4:110516473-110516474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192272986	chr4:110516498-110516499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572989329	chr4:110516541-110516542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34021639	chr4:110516542-110516543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544915341	chr4:110516557-110516558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564975566	chr4:110516575-110516576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530548227	chr4:110516655-110516656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs70954168	chr4:110516667-110516668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110508800-110523200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:110510600-110522800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:110510800-110524200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:110510800-110530800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:110511000-110521600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:110511000-110527200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:110511400-110524400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:110512000-110516200	Weak transcription	NHEK	skin
9	chr4:110512200-110519600	Weak transcription	Thymus	Thymus
10	chr4:110512200-110521200	Weak transcription	Dnd41	blood
11	chr4:110512400-110530000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:110512800-110520000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:110512800-110520200	Weak transcription	Primary T cells from cord blood	blood
14	chr4:110512800-110524000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:110512800-110524200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:110513000-110520600	Weak transcription	Fetal Thymus	thymus
17	chr4:110513000-110520800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:110513400-110517600	Weak transcription	Placenta	Placenta
19	chr4:110514000-110515600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr4:110514600-110519800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:110514800-110519800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:110514800-110520400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:110515200-110515600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:110515400-110519800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:110515600-110519800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:110515600-110520000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:110516200-110516800	Enhancers	NHEK	skin
28	chr4:110517600-110517800	Enhancers	Placenta	Placenta

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