Variant report

Variant	esv2421791
Chromosome Location	chr4:54070961-54080242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 368 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553433611	chr4:54071039-54071040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573229577	chr4:54071086-54071087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545401155	chr4:54071131-54071132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187438088	chr4:54071242-54071243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375722506	chr4:54071306-54071307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192106457	chr4:54071307-54071308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73145377	chr4:54071308-54071309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182286722	chr4:54071342-54071343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530242984	chr4:54071390-54071391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142231791	chr4:54071440-54071441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4421047	chr4:54071444-54071445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs185441322	chr4:54071446-54071447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551382655	chr4:54071465-54071466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571150579	chr4:54071545-54071546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189702267	chr4:54071590-54071591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182744408	chr4:54071599-54071600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28735545	chr4:54071654-54071655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186991150	chr4:54071680-54071681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531211230	chr4:54071723-54071724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552859951	chr4:54071730-54071731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151137330	chr4:54071803-54071804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528056443	chr4:54071824-54071825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538736600	chr4:54071870-54071871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191912241	chr4:54071902-54071903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542662986	chr4:54071921-54071922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546264726	chr4:54071924-54071925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575227208	chr4:54071933-54071934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544162353	chr4:54071960-54071961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368110290	chr4:54071977-54071978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564700616	chr4:54071982-54071983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183595567	chr4:54072016-54072017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574756244	chr4:54072020-54072021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540458360	chr4:54072052-54072053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560457015	chr4:54072084-54072085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528234318	chr4:54072184-54072185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551178504	chr4:54072202-54072203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564953270	chr4:54072234-54072235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538347071	chr4:54072265-54072266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114934381	chr4:54072377-54072378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567583376	chr4:54072436-54072437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568667557	chr4:54072439-54072440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4419530	chr4:54072445-54072446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs4515221	chr4:54072476-54072477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs188643314	chr4:54072492-54072493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558795059	chr4:54072543-54072544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575288942	chr4:54072548-54072549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537872952	chr4:54072599-54072600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193129346	chr4:54072601-54072602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184652828	chr4:54072606-54072607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574818915	chr4:54072666-54072667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54043200-54077000	Weak transcription	Primary T cells from cord blood	blood
2	chr4:54048000-54086000	Weak transcription	GM12878-XiMat	blood
3	chr4:54051000-54073000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:54053000-54093000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:54054600-54072200	Weak transcription	K562	blood
6	chr4:54056600-54076400	Weak transcription	Ovary	ovary
7	chr4:54058200-54079800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:54062800-54071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:54063400-54071400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:54063400-54079400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:54064000-54071200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:54064200-54071600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:54064400-54078400	Weak transcription	Small Intestine	intestine
14	chr4:54064400-54106600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:54066000-54071000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:54066200-54080000	Weak transcription	Psoas Muscle	Psoas
17	chr4:54066400-54099000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:54069800-54074600	Weak transcription	HepG2	liver
19	chr4:54070000-54074800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:54070200-54072600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:54070600-54071000	Weak transcription	NHDF-Ad	bronchial
22	chr4:54070800-54072200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:54071000-54071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:54071000-54072800	Enhancers	NHDF-Ad	bronchial
25	chr4:54071200-54071600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:54071200-54071600	Enhancers	NH-A	brain
27	chr4:54071200-54072200	Enhancers	Osteobl	bone
28	chr4:54071200-54072600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:54071200-54072600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:54071400-54072000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:54071400-54072200	Enhancers	HSMM	muscle
32	chr4:54072200-54073000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:54072600-54085000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:54072800-54089000	Weak transcription	NHDF-Ad	bronchial
35	chr4:54073000-54073400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:54073400-54077000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:54073400-54079200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:54074400-54075600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:54074600-54075400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:54074600-54075600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:54074600-54075600	Enhancers	HepG2	liver
42	chr4:54074800-54075400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:54074800-54075600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:54075000-54075400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:54075000-54075400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:54075000-54075600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:54075200-54075400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr4:54075400-54077000	Weak transcription	Lung	lung
49	chr4:54076400-54076600	Enhancers	Ovary	ovary
50	chr4:54076800-54077400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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