Variant report

Variant	esv2597045
Chromosome Location	chr4:86660114-86661922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86657861..86659859-chr4:86661418..86663098,2	K562	blood:
2	chr4:86655699..86658214-chr4:86658665..86660389,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567100069	chr4:86660115-86660116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182559574	chr4:86660121-86660122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72656267	chr4:86660170-86660171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115820472	chr4:86660223-86660224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538582095	chr4:86660231-86660232	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2198328	chr4:86660244-86660245	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs529692205	chr4:86660264-86660265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546321876	chr4:86660279-86660280	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs537878432	chr4:86660281-86660282	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372469248	chr4:86660429-86660430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187800551	chr4:86660463-86660464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566344181	chr4:86660469-86660470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12510148	chr4:86660479-86660480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7685320	chr4:86660500-86660501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs60808482	chr4:86660542-86660543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543701007	chr4:86660559-86660560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558972435	chr4:86660664-86660665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577286272	chr4:86660697-86660698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35472747	chr4:86660746-86660747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370718210	chr4:86660752-86660753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559303982	chr4:86660760-86660761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111428472	chr4:86660770-86660771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200072920	chr4:86660772-86660773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113922188	chr4:86660798-86660799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374006059	chr4:86660992-86660993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377714506	chr4:86661026-86661027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371081283	chr4:86661027-86661028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530063119	chr4:86661074-86661075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542508426	chr4:86661075-86661076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560888224	chr4:86661076-86661077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184319410	chr4:86661077-86661078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549712738	chr4:86661088-86661089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571293427	chr4:86661137-86661138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs343853	chr4:86661171-86661172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs201349923	chr4:86661250-86661251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147992062	chr4:86661266-86661267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7661884	chr4:86661291-86661292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565659102	chr4:86661325-86661326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536301245	chr4:86661337-86661338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79166486	chr4:86661342-86661343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71599425	chr4:86661343-86661344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62315329	chr4:86661374-86661375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375726070	chr4:86661378-86661379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537608184	chr4:86661382-86661383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80337628	chr4:86661389-86661390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76878435	chr4:86661390-86661391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58655677	chr4:86661391-86661392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71599426	chr4:86661396-86661397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs343852	chr4:86661399-86661400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534783550	chr4:86661401-86661402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86647800-86662600	Weak transcription	Left Ventricle	heart
2	chr4:86647800-86662600	Weak transcription	Spleen	Spleen
3	chr4:86648400-86662600	Weak transcription	Pancreas	Pancrea
4	chr4:86650400-86662400	Weak transcription	Adipose Nuclei	Adipose
5	chr4:86653800-86662200	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:86655000-86664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:86655600-86661600	Weak transcription	A549	lung
8	chr4:86656200-86660200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:86656400-86661800	Weak transcription	HSMM	muscle
10	chr4:86656400-86661800	Weak transcription	HUVEC	blood vessel
11	chr4:86656600-86664000	Weak transcription	Hela-S3	cervix
12	chr4:86656800-86660200	Weak transcription	HSMMtube	muscle
13	chr4:86658600-86660200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:86658800-86661800	Weak transcription	Brain Anterior Caudate	brain
15	chr4:86658800-86661800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:86658800-86664600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:86658800-86665600	Weak transcription	Psoas Muscle	Psoas
18	chr4:86659000-86660200	Weak transcription	Brain Substantia Nigra	brain
19	chr4:86659000-86661200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:86659000-86661800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr4:86659200-86661800	Weak transcription	Primary B cells from cord blood	blood
22	chr4:86659400-86662200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:86659400-86664200	Enhancers	NHDF-Ad	bronchial
24	chr4:86659800-86660200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:86659800-86660400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:86659800-86660600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:86659800-86660600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:86659800-86660600	Enhancers	HMEC	breast
29	chr4:86659800-86660600	Enhancers	NHEK	skin
30	chr4:86659800-86660800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:86659800-86667200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:86659800-86671600	Enhancers	Primary B cells from peripheral blood	blood
33	chr4:86660000-86660200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:86660000-86660400	Enhancers	Brain Hippocampus Middle	brain
35	chr4:86660000-86660400	Enhancers	Colon Smooth Muscle	Colon
36	chr4:86660000-86660600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr4:86660000-86660600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:86660000-86660600	Enhancers	Brain Cingulate Gyrus	brain
39	chr4:86660000-86660800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:86660200-86660400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:86660200-86660400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:86660200-86660400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:86660200-86660400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:86660200-86660400	Enhancers	Right Atrium	heart
45	chr4:86660200-86660400	Enhancers	Osteobl	bone
46	chr4:86660200-86660600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:86660200-86660600	Enhancers	Brain Substantia Nigra	brain
48	chr4:86660200-86660600	Enhancers	Fetal Thymus	thymus
49	chr4:86660200-86660600	Enhancers	HSMMtube	muscle
50	chr4:86660400-86660600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links