Variant report

Variant	esv2763373
Chromosome Location	chr4:86655128-86673695
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:86339378..86339952-chr4:86669138..86670126,2	MCF-7	breast:
2	chr4:86666068..86669056-chr4:86671482..86673807,2	K562	blood:
3	chr4:86657861..86659859-chr4:86661418..86663098,2	K562	blood:
4	chr4:86655653..86657316-chr4:86662237..86664343,2	MCF-7	breast:
5	chr4:86655699..86658214-chr4:86658665..86660389,2	K562	blood:
6	chr4:86669258..86671290-chr4:86671366..86674206,2	MCF-7	breast:
7	chr4:86068869..86069585-chr4:86668543..86669322,2	MCF-7	breast:
8	chr4:86651967..86654284-chr4:86654909..86657180,2	K562	blood:
9	chr4:86655699..86658214-chr4:86658665..86660389,2	K562	blood:
10	chr4:86666068..86669056-chr4:86671482..86673807,2	K562	blood:
11	chr4:86657861..86659859-chr4:86661418..86663098,2	K562	blood:
12	chr4:86068522..86069297-chr4:86668912..86669717,2	MCF-7	breast:
13	chr4:86669258..86671290-chr4:86671366..86674206,2	MCF-7	breast:
14	chr4:86655653..86657316-chr4:86662237..86664343,2	MCF-7	breast:
15	chr4:86669212..86669756-chr4:86677606..86678326,2	MCF-7	breast:

No data

Extended variants
information (count: 673 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6813860	chr4:86655128-86655129	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535700054	chr4:86655132-86655133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557025861	chr4:86655139-86655140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575344571	chr4:86655140-86655141	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs117097538	chr4:86655168-86655169	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557891475	chr4:86655233-86655234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577034931	chr4:86655278-86655279	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374289690	chr4:86655281-86655282	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11937419	chr4:86655355-86655356	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73833407	chr4:86655394-86655395	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34520141	chr4:86655520-86655521	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs398107597	chr4:86655527-86655528	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs58843094	chr4:86655528-86655529	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs75044686	chr4:86655529-86655530	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs373741866	chr4:86655561-86655562	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs377217596	chr4:86655580-86655581	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550556561	chr4:86655587-86655588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574673286	chr4:86655599-86655600	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370490046	chr4:86655637-86655638	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187162061	chr4:86655687-86655688	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs530643447	chr4:86655763-86655764	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs34647342	chr4:86655790-86655791	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs58315168	chr4:86655812-86655813	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570204031	chr4:86655817-86655818	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs563909404	chr4:86655871-86655872	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs528115638	chr4:86655872-86655873	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs116593733	chr4:86655887-86655888	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536165428	chr4:86655958-86655959	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555644187	chr4:86656052-86656053	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368178388	chr4:86656097-86656098	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79166298	chr4:86656182-86656183	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12644984	chr4:86656206-86656207	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535613594	chr4:86656256-86656257	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116444012	chr4:86656268-86656269	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568984320	chr4:86656270-86656271	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539563446	chr4:86656290-86656291	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558267917	chr4:86656354-86656355	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573135187	chr4:86656371-86656372	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534236387	chr4:86656404-86656405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552949954	chr4:86656423-86656424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373730502	chr4:86656425-86656426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142505696	chr4:86656432-86656433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12505724	chr4:86656460-86656461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563488026	chr4:86656480-86656481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575542841	chr4:86656488-86656489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145967220	chr4:86656519-86656520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557829243	chr4:86656531-86656532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565278118	chr4:86656561-86656562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1377205	chr4:86656617-86656618	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191618352	chr4:86656643-86656644	Enhancers Weak transcription	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:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86647000-86655400	Weak transcription	Brain Angular Gyrus	brain
2	chr4:86647200-86658200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:86647800-86655600	Weak transcription	Small Intestine	intestine
4	chr4:86647800-86656600	Weak transcription	Brain Anterior Caudate	brain
5	chr4:86647800-86656600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:86647800-86662600	Weak transcription	Left Ventricle	heart
7	chr4:86647800-86662600	Weak transcription	Spleen	Spleen
8	chr4:86648000-86655200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:86648400-86662600	Weak transcription	Pancreas	Pancrea
10	chr4:86649000-86655200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:86650200-86655200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:86650400-86662400	Weak transcription	Adipose Nuclei	Adipose
13	chr4:86650800-86656000	Weak transcription	HSMMtube	muscle
14	chr4:86651200-86655600	Weak transcription	HSMM	muscle
15	chr4:86653000-86655400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:86653000-86658600	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:86653600-86655200	Weak transcription	NHDF-Ad	bronchial
18	chr4:86653600-86655400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:86653600-86655400	Weak transcription	Ovary	ovary
20	chr4:86653800-86655200	Weak transcription	Fetal Heart	heart
21	chr4:86653800-86662200	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:86654600-86655200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr4:86654600-86655400	Enhancers	Colon Smooth Muscle	Colon
24	chr4:86654600-86656200	Enhancers	Primary B cells from cord blood	blood
25	chr4:86654600-86656400	Enhancers	Brain Substantia Nigra	brain
26	chr4:86654600-86657000	Enhancers	Brain Hippocampus Middle	brain
27	chr4:86654600-86659000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:86654800-86655600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:86654800-86655800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:86654800-86656200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:86655000-86655400	Weak transcription	Stomach Mucosa	stomach
32	chr4:86655000-86655400	Flanking Active TSS	GM12878-XiMat	blood
33	chr4:86655000-86655800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:86655000-86657000	Enhancers	Brain Cingulate Gyrus	brain
35	chr4:86655000-86664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:86655200-86655800	Enhancers	Primary hematopoietic stem cells	blood
37	chr4:86655200-86656000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr4:86655200-86656200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:86655200-86656400	Enhancers	Fetal Heart	heart
40	chr4:86655200-86656400	Enhancers	HUVEC	blood vessel
41	chr4:86655200-86656600	Enhancers	NHDF-Ad	bronchial
42	chr4:86655200-86659400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:86655400-86655600	Enhancers	Brain Angular Gyrus	brain
44	chr4:86655400-86655800	Enhancers	GM12878-XiMat	blood
45	chr4:86655400-86656200	Enhancers	Stomach Mucosa	stomach
46	chr4:86655400-86656600	Enhancers	Hela-S3	cervix
47	chr4:86655400-86656800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:86655400-86657200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:86655400-86660000	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:86655600-86655800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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