Variant report

Variant	nsv1014729
Chromosome Location	chr4:122806228-122848966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:122743250..122744913-chr4:122837941..122840294,2	K562	blood:
2	chr4:122835719..122837898-chr4:122839805..122842642,2	K562	blood:
3	chr4:122821573..122822174-chr4:123371746..123372570,2	MCF-7	breast:
4	chr4:122821270..122822209-chr4:123497750..123499163,4	MCF-7	breast:
5	chr4:122821690..122822297-chr4:123498649..123499219,2	K562	blood:
6	chr4:122821261..122822216-chr4:123145199..123146170,2	K562	blood:
7	chr4:122831097..122832991-chr4:122835322..122837461,2	K562	blood:
8	chr4:122821019..122822306-chr4:122923760..122925157,6	K562	blood:
9	chr4:122841291..122845931-chr4:122847267..122850880,5	K562	blood:
10	chr4:122848139..122850050-chr4:122850415..122852196,2	K562	blood:
11	chr4:122821344..122822226-chr4:122924263..122925163,6	MCF-7	breast:
12	chr4:122830833..122833361-chr4:122845683..122847936,2	K562	blood:
13	chr4:122795128..122797235-chr4:122824871..122827089,2	K562	blood:
14	chr4:122841291..122844860-chr4:122847346..122850821,4	K562	blood:
15	chr4:122830833..122833361-chr4:122845683..122847936,2	K562	blood:
16	chr4:122842482..122844320-chr4:122853503..122855114,2	MCF-7	breast:
17	chr4:122829928..122832148-chr4:122848950..122850585,2	K562	blood:
18	chr4:122829928..122832148-chr4:122848950..122850585,2	K562	blood:
19	chr4:122821031..122822144-chr4:123139638..123140511,4	MCF-7	breast:
20	chr4:122843651..122845698-chr4:122859553..122861255,2	MCF-7	breast:
21	chr4:122841291..122845931-chr4:122847267..122850880,5	K562	blood:
22	chr4:122831097..122832991-chr4:122835322..122837461,2	K562	blood:
23	chr4:122841291..122844860-chr4:122847346..122850821,4	K562	blood:
24	chr4:122835719..122837898-chr4:122839805..122842642,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138741	chromatin interactions

Extended variants
information (count: 1436 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1436 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554794160	chr4:122806404-122806405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533781337	chr4:122806446-122806447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10518289	chr4:122806447-122806448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs543494304	chr4:122806465-122806466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564008008	chr4:122806485-122806486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552715443	chr4:122806487-122806488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532651392	chr4:122806574-122806575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546531877	chr4:122806686-122806687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559954799	chr4:122806700-122806701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78693018	chr4:122806706-122806707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145491167	chr4:122806731-122806732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115641452	chr4:122806829-122806830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530521339	chr4:122806848-122806849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374405177	chr4:122806888-122806889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191252964	chr4:122806914-122806915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34362669	chr4:122806968-122806969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5861544	chr4:122806969-122806970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4001034	chr4:122806971-122806972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397995204	chr4:122806977-122806978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570435697	chr4:122806994-122806995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373116715	chr4:122807140-122807141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552869958	chr4:122807159-122807160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148851471	chr4:122807163-122807164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553987240	chr4:122807177-122807178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376122429	chr4:122807185-122807186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77884670	chr4:122807243-122807244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555039350	chr4:122807244-122807245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6825303	chr4:122807301-122807302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543902337	chr4:122807384-122807385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373986061	chr4:122807396-122807397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143524048	chr4:122807412-122807413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546494834	chr4:122807502-122807503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566458045	chr4:122807517-122807518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528683864	chr4:122807518-122807519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542103856	chr4:122807527-122807528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537085078	chr4:122807530-122807531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373693915	chr4:122807537-122807538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182939790	chr4:122807550-122807551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200258172	chr4:122807568-122807569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187179211	chr4:122807615-122807616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550666308	chr4:122807630-122807631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147979697	chr4:122807633-122807634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60084481	chr4:122807646-122807647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370782704	chr4:122807672-122807673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78901949	chr4:122807725-122807726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58589670	chr4:122807771-122807772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs578012553	chr4:122807803-122807804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535268348	chr4:122807865-122807866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75148856	chr4:122807899-122807900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7674687	chr4:122808147-122808148	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
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
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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122806400-122807400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:122807000-122807400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:122807000-122808400	Enhancers	HSMMtube	muscle
4	chr4:122807200-122808800	Enhancers	Fetal Heart	heart
5	chr4:122813200-122813400	Enhancers	Fetal Lung	lung
6	chr4:122813400-122860600	Weak transcription	Fetal Lung	lung
7	chr4:122815400-122819400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:122815600-122815800	Weak transcription	Aorta	Aorta
9	chr4:122815800-122816000	ZNF genes & repeats	Aorta	Aorta
10	chr4:122816000-122818800	Weak transcription	Aorta	Aorta
11	chr4:122819000-122819600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:122819000-122819800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:122819200-122819600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:122819200-122819600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:122819200-122819600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:122819400-122819600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:122819400-122819600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:122819400-122819600	Bivalent Enhancer	Aorta	Aorta
19	chr4:122819400-122819600	Enhancers	Ovary	ovary
20	chr4:122819600-122821200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:122819800-122821400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:122821200-122821600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr4:122821400-122821600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr4:122821400-122821600	Enhancers	Fetal Heart	heart
25	chr4:122821600-122857400	Weak transcription	Fetal Heart	heart
26	chr4:122826600-122828200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:122827000-122828000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:122827200-122829800	Weak transcription	Psoas Muscle	Psoas
29	chr4:122831200-122853200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:122834600-122835200	Enhancers	NHDF-Ad	bronchial
31	chr4:122842800-122853200	Weak transcription	Fetal Stomach	stomach
32	chr4:122844200-122845000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:122847200-122848200	Enhancers	K562	blood
34	chr4:122847800-122848000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:122848000-122848200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:122848000-122849000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:122848200-122853200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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