Variant report

Variant	esv3378956
Chromosome Location	chr4:76411853-76414301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547663027	chr4:76411917-76411918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559302480	chr4:76411925-76411926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566003861	chr4:76411983-76411984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533471260	chr4:76411991-76411992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183423942	chr4:76411996-76411997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35316729	chr4:76412027-76412028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187909080	chr4:76412042-76412043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576487020	chr4:76412049-76412050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373505417	chr4:76412061-76412062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57275697	chr4:76412081-76412082	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs537547248	chr4:76412126-76412127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191131184	chr4:76412166-76412167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146492974	chr4:76412176-76412177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534991734	chr4:76412204-76412205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531118061	chr4:76412242-76412243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549505472	chr4:76412268-76412269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182642427	chr4:76412371-76412372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577969743	chr4:76412372-76412373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59581284	chr4:76412389-76412390	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs557117012	chr4:76412449-76412450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375114747	chr4:76412469-76412470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77217682	chr4:76412485-76412486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59144786	chr4:76412489-76412490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112229643	chr4:76412490-76412491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575390874	chr4:76412523-76412524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542691203	chr4:76412560-76412561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574916016	chr4:76412581-76412582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186667544	chr4:76412585-76412586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572624101	chr4:76412648-76412649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200791854	chr4:76412706-76412707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539807258	chr4:76412722-76412723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376115200	chr4:76412738-76412739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368171667	chr4:76412764-76412765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372405343	chr4:76412788-76412789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374406012	chr4:76412802-76412803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575204289	chr4:76412823-76412824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558447765	chr4:76412825-76412826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560361475	chr4:76412826-76412827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367931469	chr4:76412840-76412841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371802092	chr4:76412841-76412842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374671709	chr4:76412846-76412847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373795131	chr4:76412850-76412851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562804202	chr4:76412854-76412855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369006663	chr4:76412877-76412878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372107342	chr4:76412927-76412928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375392806	chr4:76412942-76412943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371644231	chr4:76413029-76413030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62318618	chr4:76413030-76413031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62318619	chr4:76413031-76413032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370044880	chr4:76413034-76413035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76392600-76434800	Weak transcription	Gastric	stomach
2	chr4:76394600-76424600	Weak transcription	Right Ventricle	heart
3	chr4:76395800-76437000	Weak transcription	Aorta	Aorta
4	chr4:76395800-76437000	Weak transcription	Lung	lung
5	chr4:76395800-76437000	Weak transcription	Pancreas	Pancrea
6	chr4:76396200-76424400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:76396200-76437000	Weak transcription	Esophagus	oesophagus
8	chr4:76397200-76414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:76397800-76437000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:76398200-76415800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:76398200-76434200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:76398800-76437200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:76399400-76434400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:76400600-76437000	Weak transcription	Spleen	Spleen
15	chr4:76401000-76436200	Weak transcription	Brain Angular Gyrus	brain
16	chr4:76401800-76412400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:76402000-76412200	Strong transcription	Adipose Nuclei	Adipose
18	chr4:76402000-76418600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:76402200-76412200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:76402200-76412200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:76402200-76422000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:76402200-76423000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:76402200-76425800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr4:76402400-76412000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr4:76402400-76418400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:76402400-76418800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr4:76402400-76419200	Strong transcription	Liver	Liver
28	chr4:76402400-76425800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:76402600-76423200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:76402800-76417600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:76403000-76423800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:76403600-76418800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:76403800-76412200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:76403800-76412200	Strong transcription	Fetal Intestine Large	intestine
35	chr4:76403800-76412400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:76403800-76433600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr4:76404200-76413400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:76404200-76413400	Weak transcription	A549	lung
39	chr4:76404200-76419400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:76404400-76419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:76404400-76422800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:76404800-76418400	Strong transcription	Placenta	Placenta
43	chr4:76404800-76422800	Strong transcription	Dnd41	blood
44	chr4:76405200-76412000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:76405200-76412200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:76405400-76422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:76405600-76434400	Weak transcription	Fetal Heart	heart
48	chr4:76406000-76436600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr4:76406400-76413800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:76406600-76438800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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