Variant report

Variant	esv3509804
Chromosome Location	chr4:82324945-82327373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:82327020..82327704-chr4:83189488..83190807,3	MCF-7	breast:
2	chr4:82326725..82327501-chr4:82840095..82841287,3	MCF-7	breast:
3	chr4:82326802..82327531-chr4:83189460..83190762,4	MCF-7	breast:
4	chr4:82327037..82327640-chr4:83122910..83123879,5	MCF-7	breast:
5	chr4:82326902..82327525-chr4:82765379..82766275,4	MCF-7	breast:
6	chr4:82326927..82327852-chr4:82345884..82346881,4	K562	blood:
7	chr4:82326881..82327563-chr4:82770505..82771402,2	MCF-7	breast:
8	chr4:82327000..82327810-chr4:82341931..82342605,2	K562	blood:
9	chr4:82327015..82327603-chr4:83122849..83123538,2	MCF-7	breast:
10	chr4:82326953..82327888-chr4:82765613..82766496,6	MCF-7	breast:
11	chr4:82327052..82327580-chr4:83189067..83189954,2	K562	blood:
12	chr4:82326946..82327647-chr4:83122824..83123511,5	K562	blood:
13	chr4:82327129..82328804-chr4:82341208..82343737,2	K562	blood:
14	chr4:82327008..82327570-chr4:82765988..82766495,2	K562	blood:
15	chr4:82326836..82327578-chr4:82476960..82477646,2	K562	blood:
16	chr4:82326952..82327640-chr4:83139246..83140172,3	MCF-7	breast:
17	chr4:82326919..82327448-chr4:83206445..83206978,2	MCF-7	breast:

No data

Extended variants
information (count: 85 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554201119	chr4:82325000-82325001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189214773	chr4:82325002-82325003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180893550	chr4:82325019-82325020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151330299	chr4:82325039-82325040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115281212	chr4:82325042-82325043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17005130	chr4:82325058-82325059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561992555	chr4:82325081-82325082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527263848	chr4:82325098-82325099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72663847	chr4:82325099-82325100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185018545	chr4:82325117-82325118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140589688	chr4:82325121-82325122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36084173	chr4:82325162-82325163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190214589	chr4:82325170-82325171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150043495	chr4:82325301-82325302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376640812	chr4:82325324-82325325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533773251	chr4:82325359-82325360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182987833	chr4:82325428-82325429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548455685	chr4:82325461-82325462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187134353	chr4:82325472-82325473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191623726	chr4:82325485-82325486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553881762	chr4:82325508-82325509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375835940	chr4:82325530-82325531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75778718	chr4:82325540-82325541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145335147	chr4:82325604-82325605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539681340	chr4:82325611-82325612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556666458	chr4:82325631-82325632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17500149	chr4:82325636-82325637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542080915	chr4:82325641-82325642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555665691	chr4:82325656-82325657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142478827	chr4:82325665-82325666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540978077	chr4:82325668-82325669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563937822	chr4:82325714-82325715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532986244	chr4:82325715-82325716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34288451	chr4:82325731-82325732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543127619	chr4:82325753-82325754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146552052	chr4:82325886-82325887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531753447	chr4:82325914-82325915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183479670	chr4:82325922-82325923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115362800	chr4:82325973-82325974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545629528	chr4:82326011-82326012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527985703	chr4:82326102-82326103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373218613	chr4:82326103-82326104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548109098	chr4:82326122-82326123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72885808	chr4:82326186-82326187	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539851326	chr4:82326191-82326192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549993149	chr4:82326192-82326193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187989051	chr4:82326227-82326228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535616901	chr4:82326228-82326229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555606350	chr4:82326256-82326257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572332332	chr4:82326403-82326404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82320800-82325600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:82321000-82325600	Weak transcription	Fetal Intestine Large	intestine
3	chr4:82321000-82335800	Weak transcription	Right Atrium	heart
4	chr4:82325600-82326800	Enhancers	Fetal Intestine Large	intestine
5	chr4:82325600-82327600	Enhancers	Fetal Intestine Small	intestine
6	chr4:82326000-82326200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:82326400-82326600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr4:82326800-82327000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr4:82326800-82327000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:82326800-82327000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:82326800-82327000	Flanking Active TSS	Fetal Intestine Large	intestine
12	chr4:82326800-82327000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:82326800-82327000	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:82326800-82327000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:82326800-82327000	Flanking Active TSS	NHDF-Ad	bronchial
16	chr4:82326800-82327200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr4:82326800-82327200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:82326800-82327200	Enhancers	Dnd41	blood
19	chr4:82326800-82327400	Enhancers	Primary T cells from cord blood	blood
20	chr4:82326800-82327400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:82326800-82327400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr4:82326800-82327400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:82326800-82327400	Enhancers	Fetal Kidney	kidney
24	chr4:82326800-82327400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr4:82326800-82327600	Enhancers	Adipose Nuclei	Adipose
26	chr4:82326800-82327600	Enhancers	Liver	Liver
27	chr4:82326800-82327600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr4:82326800-82327600	Enhancers	NHEK	skin
29	chr4:82326800-82327800	Enhancers	Brain Hippocampus Middle	brain
30	chr4:82327000-82327200	Active TSS	NHDF-Ad	bronchial
31	chr4:82327000-82327400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr4:82327000-82327400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr4:82327000-82327400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:82327000-82327400	Active TSS	Brain Anterior Caudate	brain
35	chr4:82327000-82327400	Active TSS	Fetal Intestine Large	intestine
36	chr4:82327000-82327400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr4:82327000-82327400	Active TSS	Stomach Smooth Muscle	stomach
38	chr4:82327000-82327600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:82327000-82327600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:82327200-82327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr4:82327200-82327400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:82327200-82327600	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links