Variant report

Variant	nsv1019350
Chromosome Location	chr4:149232430-149282117
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	chr4:149254880..149257855-chr4:149263037..149265011,2	MCF-7	breast:
2	chr4:149254880..149257855-chr4:149263037..149265011,2	MCF-7	breast:

Extended variants
information (count: 2023 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2023 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562029177	chr4:149232431-149232432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553620753	chr4:149232434-149232435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147949272	chr4:149232455-149232456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116679111	chr4:149232537-149232538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570312136	chr4:149232555-149232556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534101289	chr4:149232559-149232560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533049580	chr4:149232589-149232590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546348210	chr4:149232597-149232598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566671790	chr4:149232679-149232680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62332049	chr4:149232698-149232699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182956854	chr4:149232837-149232838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569172706	chr4:149232861-149232862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112385785	chr4:149232899-149232900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141766506	chr4:149232919-149232920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111447164	chr4:149232922-149232923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375273280	chr4:149233003-149233004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557337356	chr4:149233047-149233048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369783356	chr4:149233058-149233059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577119628	chr4:149233149-149233150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373542359	chr4:149233150-149233151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553158390	chr4:149233172-149233173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199851969	chr4:149233228-149233229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149952397	chr4:149233232-149233233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199891935	chr4:149233233-149233234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376308037	chr4:149233234-149233235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57307059	chr4:149233236-149233237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79467445	chr4:149233237-149233238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371858409	chr4:149233240-149233241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373847956	chr4:149233241-149233242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377584785	chr4:149233242-149233243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552608621	chr4:149233250-149233251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573137400	chr4:149233263-149233264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541998277	chr4:149233266-149233267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13121960	chr4:149233314-149233315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76529918	chr4:149233345-149233346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572924097	chr4:149233404-149233405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374799287	chr4:149233461-149233462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35706591	chr4:149233462-149233463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10648420	chr4:149233465-149233466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80194313	chr4:149233483-149233484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13149615	chr4:149233507-149233508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532755684	chr4:149233513-149233514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546706679	chr4:149233555-149233556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559968626	chr4:149233603-149233604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529146610	chr4:149233634-149233635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549191147	chr4:149233688-149233689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185841706	chr4:149233707-149233708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538143273	chr4:149233714-149233715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568158675	chr4:149233735-149233736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191480164	chr4:149233746-149233747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	22083797	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149215200-149232800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:149216800-149238000	Weak transcription	Lung	lung
3	chr4:149227400-149232600	Weak transcription	Fetal Stomach	stomach
4	chr4:149227400-149234200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:149227400-149234600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:149231400-149233200	Enhancers	Ovary	ovary
7	chr4:149231400-149233200	Enhancers	Psoas Muscle	Psoas
8	chr4:149231600-149232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:149231600-149233200	Enhancers	Right Ventricle	heart
10	chr4:149232000-149232800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr4:149232000-149233200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:149232000-149233200	Enhancers	Fetal Heart	heart
13	chr4:149232000-149233200	Enhancers	Gastric	stomach
14	chr4:149232000-149233200	Enhancers	Left Ventricle	heart
15	chr4:149232000-149233200	Enhancers	Pancreas	Pancrea
16	chr4:149232000-149233200	Enhancers	Right Atrium	heart
17	chr4:149232000-149233200	Enhancers	HSMM	muscle
18	chr4:149232000-149233800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr4:149232000-149234400	Enhancers	Fetal Lung	lung
20	chr4:149232000-149234400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:149232200-149232600	Weak transcription	Small Intestine	intestine
22	chr4:149232200-149233000	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:149232200-149236200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:149232400-149232600	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:149232400-149232800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:149232400-149233800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:149232600-149232800	Enhancers	Small Intestine	intestine
28	chr4:149232600-149233000	Enhancers	Fetal Stomach	stomach
29	chr4:149232600-149233200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:149232600-149233200	Enhancers	Fetal Muscle Leg	muscle
31	chr4:149232800-149233000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:149232800-149233200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:149232800-149233200	Enhancers	Brain Angular Gyrus	brain
34	chr4:149232800-149233400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr4:149232800-149233600	Weak transcription	Small Intestine	intestine
36	chr4:149232800-149238000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:149233000-149233400	Enhancers	Brain Substantia Nigra	brain
38	chr4:149233000-149233600	Enhancers	Brain Hippocampus Middle	brain
39	chr4:149233000-149234000	Weak transcription	Fetal Stomach	stomach
40	chr4:149233000-149234400	Enhancers	Duodenum Mucosa	Duodenum
41	chr4:149233200-149234800	Weak transcription	Right Ventricle	heart
42	chr4:149233200-149235000	Weak transcription	HSMM	muscle
43	chr4:149233200-149236200	Weak transcription	Left Ventricle	heart
44	chr4:149233200-149236200	Weak transcription	Pancreas	Pancrea
45	chr4:149233200-149236200	Weak transcription	Psoas Muscle	Psoas
46	chr4:149233200-149238000	Weak transcription	Gastric	stomach
47	chr4:149233400-149234000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:149233400-149234400	Weak transcription	Brain Substantia Nigra	brain
49	chr4:149233600-149234200	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:149233600-149234400	Enhancers	Small Intestine	intestine

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