Variant report

Variant	esv2762432
Chromosome Location	chr4:53929894-53942489
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	chr4:53925882..53929122-chr4:53930339..53932825,3	K562	blood:

Extended variants
information (count: 404 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4864442	chr4:53929894-53929895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368478864	chr4:53929900-53929901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190523044	chr4:53929957-53929958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180874126	chr4:53929967-53929968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370966237	chr4:53930000-53930001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148829578	chr4:53930071-53930072	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146951446	chr4:53930099-53930100	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544016051	chr4:53930115-53930116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534727814	chr4:53930121-53930122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529315428	chr4:53930125-53930126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549348092	chr4:53930142-53930143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75260722	chr4:53930203-53930204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528773467	chr4:53930285-53930286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62338967	chr4:53930309-53930310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138046702	chr4:53930318-53930319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184926577	chr4:53930346-53930347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143200136	chr4:53930377-53930378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28568831	chr4:53930390-53930391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545300695	chr4:53930407-53930408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535141475	chr4:53930408-53930409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555323925	chr4:53930414-53930415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147497522	chr4:53930447-53930448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371394452	chr4:53930493-53930494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557591673	chr4:53930500-53930501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556310448	chr4:53930551-53930552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112318038	chr4:53930602-53930603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79206884	chr4:53930605-53930606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577419871	chr4:53930644-53930645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543602116	chr4:53930675-53930676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563671680	chr4:53930677-53930678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529372531	chr4:53930698-53930699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148143104	chr4:53930701-53930702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542618425	chr4:53930712-53930713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559805311	chr4:53930723-53930724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141982289	chr4:53930738-53930739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150698753	chr4:53930775-53930776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139682469	chr4:53930821-53930822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374800597	chr4:53930850-53930851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189685000	chr4:53930884-53930885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7663460	chr4:53930896-53930897	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569681644	chr4:53930916-53930917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535561767	chr4:53930998-53930999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182710152	chr4:53931063-53931064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143629526	chr4:53931064-53931065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62338968	chr4:53931067-53931068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185389898	chr4:53931069-53931070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7662427	chr4:53931107-53931108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577505094	chr4:53931126-53931127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78298114	chr4:53931177-53931178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553132305	chr4:53931185-53931186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Idiopathic hypereosinophilic syndrome	20824076	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53921600-53933200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:53922000-53933600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:53922200-53945600	Weak transcription	Ovary	ovary
4	chr4:53922200-53954600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:53922600-53931400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:53922600-53933400	Weak transcription	Osteobl	bone
7	chr4:53924200-53932000	Weak transcription	HepG2	liver
8	chr4:53927000-53930400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:53929200-53933600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr4:53929800-53930000	Enhancers	Stomach Mucosa	stomach
11	chr4:53929800-53930200	Strong transcription	Primary T cells from cord blood	blood
12	chr4:53930200-53933200	Weak transcription	Primary T cells from cord blood	blood
13	chr4:53930400-53930800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr4:53930400-53932000	Weak transcription	Stomach Mucosa	stomach
15	chr4:53930800-53931800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr4:53930800-53932800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:53931400-53931600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:53931800-53932000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:53931800-53933000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr4:53932000-53932800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr4:53932000-53933000	Enhancers	Stomach Mucosa	stomach
22	chr4:53932000-53933200	Enhancers	HepG2	liver
23	chr4:53932200-53932600	Enhancers	Fetal Intestine Small	intestine
24	chr4:53932800-53933000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:53932800-53933400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr4:53933000-53933200	Enhancers	Pancreas	Pancrea
27	chr4:53933000-53934200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:53933200-53934200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:53933200-53934200	Strong transcription	Primary T cells from cord blood	blood
30	chr4:53933200-53945200	Weak transcription	Pancreas	Pancrea
31	chr4:53933400-53933600	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr4:53933400-53933600	ZNF genes & repeats	Osteobl	bone
33	chr4:53933400-53959200	Weak transcription	Gastric	stomach
34	chr4:53933600-53934000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:53933800-53948800	Weak transcription	Aorta	Aorta
36	chr4:53934000-53934400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr4:53934000-53941800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:53934200-53934400	Weak transcription	Primary T cells from cord blood	blood
39	chr4:53934200-53936800	Weak transcription	Primary B cells from cord blood	blood
40	chr4:53934200-53964600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:53934400-53934600	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr4:53934400-53938800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:53934400-53944000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:53934800-53942400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:53935000-53935200	Enhancers	Fetal Kidney	kidney
46	chr4:53935000-53935800	Enhancers	HepG2	liver
47	chr4:53935200-53935600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:53935200-53935600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:53935200-53935600	Enhancers	NH-A	brain
50	chr4:53935200-53935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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