Variant report

Variant	esv2321267
Chromosome Location	chr4:56041355-56041799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180683353	chr4:56041361-56041362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112952674	chr4:56041390-56041391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199869555	chr4:56041391-56041392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371949308	chr4:56041394-56041395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55890933	chr4:56041395-56041396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540971479	chr4:56041403-56041404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143664782	chr4:56041408-56041409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12716020	chr4:56041413-56041414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12716021	chr4:56041419-56041420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370778549	chr4:56041438-56041439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138189825	chr4:56041493-56041494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202175600	chr4:56041534-56041535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57405788	chr4:56041564-56041565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184457190	chr4:56041587-56041588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373920236	chr4:56041620-56041621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10012700	chr4:56041628-56041629	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568207593	chr4:56041644-56041645	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533826694	chr4:56041647-56041648	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547247390	chr4:56041698-56041699	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs189330320	chr4:56041707-56041708	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181876132	chr4:56041747-56041748	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558564128	chr4:56041761-56041762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs17085434	chr4:56041770-56041771	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142856265	chr4:56041778-56041779	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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	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	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56035800-56042200	Weak transcription	Right Atrium	heart
2	chr4:56036000-56050600	Weak transcription	Pancreas	Pancrea
3	chr4:56036200-56041800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:56036200-56044400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:56036800-56044600	Weak transcription	Stomach Mucosa	stomach
6	chr4:56037800-56042200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:56038600-56041600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:56038600-56041600	Enhancers	NHDF-Ad	bronchial
9	chr4:56038800-56042000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:56039200-56041800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:56039200-56041800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:56039400-56041600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:56039400-56041600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:56039400-56041800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:56039400-56042200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:56039400-56043800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:56039600-56041400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:56039600-56041600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:56039600-56041600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:56039600-56041600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:56039600-56041600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:56039600-56042000	Enhancers	HUVEC	blood vessel
23	chr4:56039600-56042200	Weak transcription	Placenta	Placenta
24	chr4:56039600-56043800	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:56039800-56041600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:56040000-56041400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:56040000-56041400	Weak transcription	HMEC	breast
28	chr4:56040000-56041600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:56040000-56041600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:56040000-56041600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:56040000-56041600	Weak transcription	NHEK	skin
32	chr4:56040200-56041400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:56040200-56041600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:56040200-56041600	Weak transcription	Hela-S3	cervix
35	chr4:56040200-56041600	Weak transcription	HSMM	muscle
36	chr4:56040800-56042000	Enhancers	Osteobl	bone
37	chr4:56041000-56041400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:56041000-56041400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr4:56041000-56041600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr4:56041200-56041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:56041200-56041600	Enhancers	NH-A	brain
42	chr4:56041200-56042600	Enhancers	NHLF	lung
43	chr4:56041200-56042800	Enhancers	HSMMtube	muscle
44	chr4:56041400-56042200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:56041400-56042200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:56041400-56042400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:56041400-56042400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:56041400-56042800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:56041400-56042800	Enhancers	HMEC	breast
50	chr4:56041400-56044400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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