Variant report

Variant	nsv818233
Chromosome Location	chr4:57066601-57071639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 196 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4865063	chr4:57066601-57066602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555551653	chr4:57066638-57066639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572349096	chr4:57066651-57066652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534864407	chr4:57066706-57066707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143846910	chr4:57066790-57066791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189822624	chr4:57066820-57066821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543072073	chr4:57066823-57066824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563248146	chr4:57066851-57066852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9312670	chr4:57066918-57066919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181642078	chr4:57066935-57066936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73240523	chr4:57066940-57066941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9312671	chr4:57066941-57066942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12644788	chr4:57066992-57066993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs77068866	chr4:57067036-57067037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533439664	chr4:57067043-57067044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185582643	chr4:57067049-57067050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549913414	chr4:57067059-57067060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535245241	chr4:57067068-57067069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529669002	chr4:57067073-57067074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75019237	chr4:57067099-57067100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371782727	chr4:57067139-57067140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549291863	chr4:57067207-57067208	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144244971	chr4:57067259-57067260	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2045983	chr4:57067275-57067276	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558302695	chr4:57067340-57067341	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540350457	chr4:57067355-57067356	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190147202	chr4:57067370-57067371	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537108758	chr4:57067417-57067418	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559057472	chr4:57067424-57067425	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2045984	chr4:57067425-57067426	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182798988	chr4:57067453-57067454	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147741563	chr4:57067479-57067480	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142658919	chr4:57067500-57067501	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79641838	chr4:57067536-57067537	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551586443	chr4:57067542-57067543	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144795254	chr4:57067605-57067606	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs13127155	chr4:57067618-57067619	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs185914106	chr4:57067666-57067667	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs13150468	chr4:57067691-57067692	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs373973041	chr4:57067709-57067710	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs78437101	chr4:57067742-57067743	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs563417899	chr4:57067757-57067758	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs529281926	chr4:57067769-57067770	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs548929843	chr4:57067825-57067826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571501963	chr4:57067869-57067870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17807056	chr4:57067945-57067946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528736271	chr4:57067966-57067967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372660185	chr4:57067980-57067981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551691118	chr4:57068023-57068024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571849981	chr4:57068024-57068025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57023000-57076000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:57050000-57076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57050000-57084600	Weak transcription	Fetal Brain Male	brain
4	chr4:57050600-57075800	Weak transcription	Ovary	ovary
5	chr4:57053600-57074200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:57054200-57072400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:57054200-57077200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:57057000-57076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:57057000-57076400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:57057600-57077400	Weak transcription	Fetal Brain Female	brain
11	chr4:57057800-57070200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:57057800-57071000	Weak transcription	Brain Germinal Matrix	brain
13	chr4:57058000-57068000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:57058000-57069200	Weak transcription	Fetal Stomach	stomach
15	chr4:57058000-57069400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:57059200-57072600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:57059400-57072400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:57062600-57066800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:57063000-57107800	Weak transcription	Fetal Kidney	kidney
20	chr4:57064600-57068400	Weak transcription	Fetal Intestine Small	intestine
21	chr4:57064800-57074200	Weak transcription	Fetal Intestine Large	intestine
22	chr4:57065400-57067600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:57066000-57066800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:57066000-57066800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:57066400-57067000	Enhancers	HUVEC	blood vessel
26	chr4:57066400-57067600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:57066800-57068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:57066800-57069400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:57066800-57077200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:57067000-57072200	Weak transcription	HUVEC	blood vessel
31	chr4:57067200-57067800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:57067600-57068200	Weak transcription	Esophagus	oesophagus
33	chr4:57067600-57072400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:57067600-57077400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:57068000-57068800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:57068000-57070400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:57068400-57070600	Strong transcription	Fetal Intestine Small	intestine
38	chr4:57068600-57068800	Enhancers	Esophagus	oesophagus
39	chr4:57068800-57069000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:57069000-57070800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:57069200-57070400	Strong transcription	Fetal Stomach	stomach
42	chr4:57069400-57070400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:57069400-57070400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:57069800-57070200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:57070000-57070400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr4:57070200-57070400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:57070200-57070400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:57070200-57071000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:57070400-57072400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:57070400-57072400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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