Variant report

Variant	nsv441917
Chromosome Location	chr4:143615874-143619949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143535438..143537079-chr4:143616792..143619386,2	MCF-7	breast:
2	chr4:143610637..143613671-chr4:143616411..143618882,3	MCF-7	breast:
3	chr4:143393259..143398108-chr4:143615372..143620802,7	MCF-7	breast:
4	chr4:143393327..143398147-chr4:143615863..143619957,7	MCF-7	breast:
5	chr4:143274014..143275963-chr4:143618160..143619947,2	MCF-7	breast:
6	chr4:143588349..143590393-chr4:143619643..143621785,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74550001	chr4:143615925-143615926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189997278	chr4:143615930-143615931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555906205	chr4:143615931-143615932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145353724	chr4:143615934-143615935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574135962	chr4:143615945-143615946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528828391	chr4:143616021-143616022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10020865	chr4:143616054-143616055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568474830	chr4:143616067-143616068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147635990	chr4:143616114-143616115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181088399	chr4:143616115-143616116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13114437	chr4:143616148-143616149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569010745	chr4:143616152-143616153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539204008	chr4:143616182-143616183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557569652	chr4:143616369-143616370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200240812	chr4:143616432-143616433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113454763	chr4:143616527-143616528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534132437	chr4:143616559-143616560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185521972	chr4:143616589-143616590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201357511	chr4:143616594-143616595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11732693	chr4:143616610-143616611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543870513	chr4:143616675-143616676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs556254957	chr4:143616710-143616711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113252338	chr4:143616750-143616751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189647928	chr4:143616758-143616759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546417512	chr4:143616804-143616805	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563977306	chr4:143616823-143616824	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564699212	chr4:143616845-143616846	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542061844	chr4:143616903-143616904	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531022967	chr4:143616906-143616907	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs180937300	chr4:143617019-143617020	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187159185	chr4:143617072-143617073	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192131389	chr4:143617084-143617085	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12650777	chr4:143617099-143617100	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562629496	chr4:143617100-143617101	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149181077	chr4:143617101-143617102	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75480354	chr4:143617183-143617184	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566627864	chr4:143617184-143617185	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77335039	chr4:143617219-143617220	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549216919	chr4:143617240-143617241	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13145057	chr4:143617241-143617242	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537839636	chr4:143617302-143617303	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11943397	chr4:143617304-143617305	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11937786	chr4:143617322-143617323	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183910065	chr4:143617432-143617433	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553919638	chr4:143617456-143617457	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573356973	chr4:143617479-143617480	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540473688	chr4:143617500-143617501	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs151318539	chr4:143617542-143617543	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568293771	chr4:143617578-143617579	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574289369	chr4:143617583-143617584	Enhancers Flanking Active TSS	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
Pancreatic cancer	17952125	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143610200-143617000	Weak transcription	Thymus	Thymus
2	chr4:143611000-143617000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:143611000-143617400	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:143611600-143617000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:143611800-143617000	Enhancers	Dnd41	blood
6	chr4:143612400-143617200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:143613000-143616800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:143613000-143617000	Weak transcription	Left Ventricle	heart
9	chr4:143613000-143617200	Weak transcription	Psoas Muscle	Psoas
10	chr4:143613200-143616800	Weak transcription	Fetal Heart	heart
11	chr4:143613200-143617000	Weak transcription	Fetal Thymus	thymus
12	chr4:143614400-143616000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:143614600-143616800	Weak transcription	Primary T cells from cord blood	blood
14	chr4:143615000-143616000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:143615200-143616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:143615600-143617000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:143615800-143616200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:143615800-143617000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:143615800-143617000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr4:143615800-143620200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:143616000-143620600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr4:143616000-143628800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:143616200-143616600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:143616200-143617200	Weak transcription	Aorta	Aorta
25	chr4:143616400-143620200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:143616600-143617000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr4:143616800-143617600	Enhancers	Primary T cells from cord blood	blood
28	chr4:143616800-143618600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr4:143616800-143618600	Enhancers	Fetal Heart	heart
30	chr4:143616800-143621000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr4:143616800-143621600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:143616800-143629600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:143617000-143617600	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:143617000-143617600	Enhancers	Thymus	Thymus
35	chr4:143617000-143617800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:143617000-143617800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr4:143617000-143617800	Enhancers	Left Ventricle	heart
38	chr4:143617000-143617800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr4:143617000-143618000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:143617000-143618000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:143617000-143618000	Flanking Active TSS	Dnd41	blood
42	chr4:143617000-143618400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:143617000-143618600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr4:143617000-143618600	Enhancers	Fetal Thymus	thymus
45	chr4:143617000-143618800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr4:143617000-143624200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr4:143617200-143617800	Enhancers	Psoas Muscle	Psoas
48	chr4:143617200-143618000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:143617200-143618000	Enhancers	Aorta	Aorta
50	chr4:143617200-143618000	Enhancers	Gastric	stomach

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