Variant report

Variant	nsv980514
Chromosome Location	chr4:124620149-124622952
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	chr4:124591127..124594016-chr4:124622193..124624753,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531767887	chr4:124620151-124620152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532960364	chr4:124620170-124620171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543813105	chr4:124620185-124620186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546658590	chr4:124620191-124620192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560174935	chr4:124620199-124620200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183656308	chr4:124620251-124620252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548834319	chr4:124620352-124620353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189534590	chr4:124620363-124620364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182042090	chr4:124620368-124620369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550661289	chr4:124620416-124620417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12651367	chr4:124620455-124620456	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539539476	chr4:124620483-124620484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552986323	chr4:124620520-124620521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572881683	chr4:124620573-124620574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535408347	chr4:124620584-124620585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373177772	chr4:124620624-124620625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114892508	chr4:124620625-124620626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6534421	chr4:124620630-124620631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs59797108	chr4:124620750-124620751	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114760387	chr4:124620806-124620807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540309199	chr4:124620817-124620818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560211740	chr4:124620877-124620878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191577941	chr4:124620878-124620879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548608177	chr4:124620916-124620917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115463047	chr4:124620972-124620973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59827664	chr4:124621004-124621005	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370456228	chr4:124621012-124621013	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs550800215	chr4:124621017-124621018	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs55954942	chr4:124621035-124621036	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs372508432	chr4:124621068-124621069	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150216879	chr4:124621082-124621083	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs200246500	chr4:124621119-124621120	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs76033699	chr4:124621170-124621171	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566769583	chr4:124621207-124621208	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs116230097	chr4:124621238-124621239	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs72670521	chr4:124621393-124621394	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138856265	chr4:124621434-124621435	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546206518	chr4:124621473-124621474	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs74399044	chr4:124621532-124621533	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375608141	chr4:124621598-124621599	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs890180	chr4:124621650-124621651	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181376328	chr4:124621681-124621682	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs76275220	chr4:124621755-124621756	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573558117	chr4:124621773-124621774	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs72670522	chr4:124621829-124621830	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562332559	chr4:124621871-124621872	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs35225232	chr4:124621903-124621904	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs531272887	chr4:124621907-124621908	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs185905968	chr4:124621923-124621924	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs116830000	chr4:124621924-124621925	Weak transcription Enhancers Active TSS Flanking Active TSS	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124610400-124621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:124615800-124621000	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:124617200-124620400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:124618400-124632000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:124618600-124621000	Weak transcription	Psoas Muscle	Psoas
6	chr4:124618600-124621000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:124619400-124621400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:124619400-124621400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:124619800-124621000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:124620400-124621400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:124620400-124621400	Enhancers	NHLF	lung
12	chr4:124620400-124621600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:124620400-124623200	Enhancers	Fetal Lung	lung
14	chr4:124620600-124621400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:124620600-124621400	Enhancers	Osteobl	bone
16	chr4:124620800-124621000	Enhancers	Brain Hippocampus Middle	brain
17	chr4:124620800-124621000	Enhancers	Fetal Brain Male	brain
18	chr4:124620800-124621200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:124620800-124621400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:124620800-124621400	Enhancers	NHDF-Ad	bronchial
21	chr4:124620800-124621600	Enhancers	Colon Smooth Muscle	Colon
22	chr4:124620800-124621600	Enhancers	HSMMtube	muscle
23	chr4:124620800-124621800	Enhancers	NH-A	brain
24	chr4:124620800-124622000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:124620800-124622000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:124620800-124622800	Enhancers	HSMM	muscle
27	chr4:124620800-124623200	Enhancers	HUVEC	blood vessel
28	chr4:124621000-124621200	Enhancers	Adipose Nuclei	Adipose
29	chr4:124621000-124621200	Flanking Active TSS	Fetal Brain Male	brain
30	chr4:124621000-124621400	Enhancers	Fetal Muscle Leg	muscle
31	chr4:124621000-124621600	Enhancers	Stomach Smooth Muscle	stomach
32	chr4:124621000-124621800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:124621000-124621800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr4:124621000-124621800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:124621000-124621800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:124621000-124622000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:124621000-124622000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:124621000-124622000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:124621000-124622000	Enhancers	Fetal Intestine Large	intestine
40	chr4:124621000-124622000	Enhancers	Fetal Stomach	stomach
41	chr4:124621000-124622000	Enhancers	Psoas Muscle	Psoas
42	chr4:124621000-124622000	Enhancers	HMEC	breast
43	chr4:124621000-124622200	Enhancers	Rectal Smooth Muscle	rectum
44	chr4:124621000-124622600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:124621000-124623200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:124621200-124621400	Enhancers	Aorta	Aorta
47	chr4:124621200-124621400	Active TSS	Brain Anterior Caudate	brain
48	chr4:124621200-124621400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:124621200-124621400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr4:124621200-124621600	Active TSS	Brain Angular Gyrus	brain

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