Variant report

Variant	esv3492848
Chromosome Location	chr4:56770810-56775264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56769616..56772179-chr4:56795493..56798021,2	K562	blood:
2	chr4:56767756..56770065-chr4:56770884..56773389,3	K562	blood:
3	chr4:56770927..56772433-chr4:56774182..56776594,2	MCF-7	breast:
4	chr4:56770927..56772433-chr4:56774182..56776594,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222954	chromatin interactions
ENSG00000090989	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs535022727	chr4:56770824-56770825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540538035	chr4:56770837-56770838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560388610	chr4:56770871-56770872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543487357	chr4:56770907-56770908	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs2702348	chr4:56770916-56770917	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545501032	chr4:56771033-56771034	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs115628925	chr4:56771050-56771051	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531054275	chr4:56771081-56771082	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376435063	chr4:56771083-56771084	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11658	chr4:56771089-56771090	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532816698	chr4:56771120-56771121	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547393566	chr4:56771174-56771175	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs561342717	chr4:56771176-56771177	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552390417	chr4:56771195-56771196	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566194670	chr4:56771245-56771246	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113125616	chr4:56771289-56771290	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533674134	chr4:56771302-56771303	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148855503	chr4:56771309-56771310	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530283057	chr4:56771313-56771314	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371154524	chr4:56771315-56771316	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs34197674	chr4:56771320-56771321	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111876502	chr4:56771322-56771323	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs76155596	chr4:56771323-56771324	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73238398	chr4:56771334-56771335	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79771771	chr4:56771362-56771363	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568500942	chr4:56771367-56771368	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568826769	chr4:56771413-56771414	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs1816932	chr4:56771414-56771415	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554222625	chr4:56771426-56771427	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs143703155	chr4:56771447-56771448	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116399043	chr4:56771521-56771522	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570551980	chr4:56771523-56771524	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187914538	chr4:56771524-56771525	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554140098	chr4:56771627-56771628	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373964192	chr4:56771708-56771709	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577087634	chr4:56771730-56771731	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs7696041	chr4:56771733-56771734	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73238399	chr4:56771749-56771750	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs193013837	chr4:56771797-56771798	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs9968386	chr4:56771826-56771827	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539758228	chr4:56771827-56771828	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs530076888	chr4:56771878-56771879	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs184150160	chr4:56771906-56771907	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs146215545	chr4:56771924-56771925	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188247092	chr4:56772006-56772007	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532683492	chr4:56772044-56772045	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs6856461	chr4:56772046-56772047	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192060793	chr4:56772083-56772084	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs369786043	chr4:56772092-56772093	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548308684	chr4:56772101-56772102	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
2	chr4:56733800-56772200	Weak transcription	Hela-S3	cervix
3	chr4:56733800-56772800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:56734400-56773000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:56734600-56773400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:56737000-56774800	Weak transcription	Psoas Muscle	Psoas
7	chr4:56738000-56771400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:56745800-56772800	Weak transcription	Small Intestine	intestine
9	chr4:56747800-56772800	Weak transcription	NHEK	skin
10	chr4:56748000-56772000	Weak transcription	NHLF	lung
11	chr4:56748000-56773200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:56748200-56773400	Weak transcription	Gastric	stomach
13	chr4:56748600-56773000	Weak transcription	Right Ventricle	heart
14	chr4:56748600-56773200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:56748600-56773400	Weak transcription	Colonic Mucosa	Colon
16	chr4:56748600-56776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:56751400-56776200	Weak transcription	A549	lung
18	chr4:56754800-56772800	Strong transcription	Placenta	Placenta
19	chr4:56755800-56772000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr4:56755800-56772200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:56756000-56773200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr4:56756600-56773200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:56758000-56772800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:56758600-56773200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:56758800-56772800	Strong transcription	Liver	Liver
26	chr4:56759800-56774200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:56760200-56771600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:56760200-56772600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:56760200-56773600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:56760400-56772000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:56760400-56772800	Weak transcription	HMEC	breast
32	chr4:56760400-56773600	Weak transcription	Pancreas	Pancrea
33	chr4:56760400-56774400	Weak transcription	Fetal Brain Male	brain
34	chr4:56760400-56775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:56760600-56772800	Weak transcription	K562	blood
36	chr4:56761600-56771400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:56761800-56773400	Weak transcription	Thymus	Thymus
38	chr4:56762200-56773200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:56762200-56776600	Weak transcription	Osteobl	bone
40	chr4:56762400-56773600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:56763000-56771800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:56764400-56771400	Weak transcription	Aorta	Aorta
43	chr4:56764400-56771400	Weak transcription	Fetal Stomach	stomach
44	chr4:56764400-56772200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:56764400-56773200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:56764400-56773200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:56764400-56773200	Weak transcription	Brain Anterior Caudate	brain
48	chr4:56764400-56773200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:56764400-56773400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr4:56764400-56773600	Weak transcription	Colon Smooth Muscle	Colon

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