Variant report

Variant	esv3328418
Chromosome Location	chr4:78857686-78859314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530269566	chr4:78857734-78857735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547228544	chr4:78857758-78857759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369343430	chr4:78857762-78857763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532829577	chr4:78857770-78857771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552948428	chr4:78857798-78857799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372782767	chr4:78857854-78857855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148293150	chr4:78857922-78857923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140463899	chr4:78857961-78857962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147040445	chr4:78857962-78857963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182054515	chr4:78857977-78857978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564439584	chr4:78857981-78857982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536007664	chr4:78857997-78857998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552734972	chr4:78858052-78858053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374401010	chr4:78858058-78858059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566357765	chr4:78858131-78858132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185251420	chr4:78858147-78858148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573926820	chr4:78858148-78858149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558466252	chr4:78858175-78858176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575138704	chr4:78858211-78858212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543870319	chr4:78858215-78858216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554613706	chr4:78858263-78858264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79528770	chr4:78858279-78858280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201893355	chr4:78858289-78858290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1039467	chr4:78858310-78858311	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs118059941	chr4:78858347-78858348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560662144	chr4:78858355-78858356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79852903	chr4:78858385-78858386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147394659	chr4:78858470-78858471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563042699	chr4:78858483-78858484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531701582	chr4:78858488-78858489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4577601	chr4:78858515-78858516	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs191137786	chr4:78858520-78858521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138153102	chr4:78858530-78858531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180949475	chr4:78858556-78858557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547531581	chr4:78858579-78858580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566323467	chr4:78858603-78858604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186359979	chr4:78858661-78858662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74470005	chr4:78858664-78858665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569081124	chr4:78858669-78858670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538173737	chr4:78858708-78858709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373953960	chr4:78858731-78858732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149483898	chr4:78858740-78858741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143968502	chr4:78858745-78858746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376860516	chr4:78858750-78858751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570113865	chr4:78858796-78858797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553913857	chr4:78858808-78858809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577466710	chr4:78858809-78858810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546441645	chr4:78858810-78858811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563161334	chr4:78858883-78858884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78069507	chr4:78858885-78858886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
colon cancer	22000013	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78784800-78859800	Weak transcription	Esophagus	oesophagus
2	chr4:78785000-78874400	Weak transcription	Right Ventricle	heart
3	chr4:78802400-78858400	Weak transcription	Aorta	Aorta
4	chr4:78806000-78881000	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:78806600-78875600	Weak transcription	Colonic Mucosa	Colon
6	chr4:78809600-78865400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:78809600-78881200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:78814600-78874400	Weak transcription	Pancreas	Pancrea
9	chr4:78816400-78866400	Weak transcription	Fetal Thymus	thymus
10	chr4:78816400-78876000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:78816600-78875800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:78818800-78872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:78821000-78866000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:78821400-78873200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:78830000-78866600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:78830400-78877000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:78831800-78865800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:78832000-78858000	Weak transcription	Fetal Stomach	stomach
19	chr4:78833600-78865400	Weak transcription	Fetal Kidney	kidney
20	chr4:78842200-78865600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:78842400-78865400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:78843800-78858000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:78843800-78858000	Weak transcription	Left Ventricle	heart
24	chr4:78843800-78865200	Weak transcription	Psoas Muscle	Psoas
25	chr4:78844200-78871400	Weak transcription	NHDF-Ad	bronchial
26	chr4:78847400-78860200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:78847600-78865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:78848800-78869000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:78849400-78876600	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:78849600-78871400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:78849600-78881000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:78849800-78858800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:78850200-78881000	Weak transcription	A549	lung
34	chr4:78851200-78859600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:78852000-78858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:78852000-78881200	Weak transcription	Lung	lung
37	chr4:78852600-78878200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:78853000-78865200	Weak transcription	GM12878-XiMat	blood
39	chr4:78853000-78865400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:78853000-78874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:78853200-78858400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:78853200-78861400	Weak transcription	Placenta	Placenta
43	chr4:78853200-78861400	Weak transcription	NHLF	lung
44	chr4:78853200-78862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:78853200-78865200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:78853200-78865200	Weak transcription	K562	blood
47	chr4:78853200-78865800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:78853200-78874600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:78853200-78878000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:78853200-78880800	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links