Variant report

Variant	esv33037
Chromosome Location	chr4:124560634-124563928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRY1-4	chr4:124561437-124561699	NONHSAT098193
2	lnc-SPRY1-2	chr4:124560706-124560877	NONHSAT098194

Extended variants
information (count: 141 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147816654	chr4:124560636-124560637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575088752	chr4:124560642-124560643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537215338	chr4:124560654-124560655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557554243	chr4:124560663-124560664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577245499	chr4:124560678-124560679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193106973	chr4:124560685-124560686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553399761	chr4:124560690-124560691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553638000	chr4:124560694-124560695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75392641	chr4:124560715-124560716	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs78379215	chr4:124560716-124560717	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs2911938	chr4:124560835-124560836	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs370472309	chr4:124560836-124560837	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs2911939	chr4:124560841-124560842	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs376330962	chr4:124560877-124560878	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs561799325	chr4:124560880-124560881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141267827	chr4:124560951-124560952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185838347	chr4:124560974-124560975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188203706	chr4:124560977-124560978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181072710	chr4:124560999-124561000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374700359	chr4:124561056-124561057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141336116	chr4:124561101-124561102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566235085	chr4:124561106-124561107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368298987	chr4:124561128-124561129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544245703	chr4:124561138-124561139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548586103	chr4:124561145-124561146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563217114	chr4:124561161-124561162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187157670	chr4:124561183-124561184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537778327	chr4:124561192-124561193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201483949	chr4:124561200-124561201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370884686	chr4:124561221-124561222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192131593	chr4:124561298-124561299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183908517	chr4:124561307-124561308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540040819	chr4:124561319-124561320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553462994	chr4:124561360-124561361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573389130	chr4:124561387-124561388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4833934	chr4:124561418-124561419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186865741	chr4:124561430-124561431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367860033	chr4:124561438-124561439	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs575431835	chr4:124561446-124561447	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs190622092	chr4:124561451-124561452	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs564120434	chr4:124561472-124561473	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs532919097	chr4:124561524-124561525	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs79747824	chr4:124561525-124561526	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs540049494	chr4:124561582-124561583	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs528294264	chr4:124561611-124561612	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs147598884	chr4:124561614-124561615	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs12647685	chr4:124561620-124561621	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7672183	chr4:124561630-124561631	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182444135	chr4:124561707-124561708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568869416	chr4:124561732-124561733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124553800-124564400	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:124558400-124569800	Weak transcription	Psoas Muscle	Psoas
3	chr4:124560000-124562400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:124560400-124569000	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:124560600-124568600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:124561600-124561800	Enhancers	NHDF-Ad	bronchial
7	chr4:124561600-124562000	Weak transcription	Fetal Kidney	kidney
8	chr4:124561600-124562000	Enhancers	HMEC	breast
9	chr4:124562000-124562200	ZNF genes & repeats	Fetal Kidney	kidney
10	chr4:124562200-124564200	Weak transcription	Fetal Kidney	kidney
11	chr4:124562400-124562600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:124562400-124562800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:124562600-124562800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:124562600-124562800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:124562600-124562800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:124562600-124564000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:124563000-124564200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:124563000-124564200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:124563000-124564600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:124563600-124565400	Enhancers	HUES64 Cell Line	embryonic stem cell

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