Variant report

Variant	esv1795666
Chromosome Location	chr4:79436927-79443850
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:78980165..78981369-chr4:79437966..79439156,9	MCF-7	breast:
2	chr4:79438376..79441238-chr4:79442395..79444872,3	K562	blood:
3	chr4:79435238..79438069-chr4:79439361..79441507,2	K562	blood:
4	chr4:78915334..78916174-chr4:79437913..79438840,4	MCF-7	breast:
5	chr4:78880830..78881335-chr4:79437906..79438895,2	K562	blood:
6	chr4:78980443..78981479-chr4:79437986..79438999,5	MCF-7	breast:
7	chr4:79435238..79438069-chr4:79439361..79441507,2	K562	blood:
8	chr4:79232089..79232591-chr4:79437995..79438547,2	MCF-7	breast:
9	chr4:78915311..78916190-chr4:79437915..79438836,3	K562	blood:
10	chr4:79438376..79441238-chr4:79442395..79444872,3	K562	blood:
11	chr4:79442586..79444586-chr4:79481129..79483159,2	K562	blood:

No data

Extended variants
information (count: 324 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7682977	chr4:79436927-79436928	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183414935	chr4:79436934-79436935	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568014551	chr4:79436996-79436997	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34034599	chr4:79437008-79437009	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200203389	chr4:79437009-79437010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187826477	chr4:79437012-79437013	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570546002	chr4:79437013-79437014	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189612722	chr4:79437015-79437016	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373601771	chr4:79437027-79437028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367736604	chr4:79437035-79437036	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201947516	chr4:79437039-79437040	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375509252	chr4:79437040-79437041	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34806279	chr4:79437047-79437048	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34678339	chr4:79437056-79437057	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377102088	chr4:79437077-79437078	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367898509	chr4:79437083-79437084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34063631	chr4:79437090-79437091	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs376389651	chr4:79437135-79437136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368797461	chr4:79437154-79437155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3749487	chr4:79437155-79437156	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs74632598	chr4:79437178-79437179	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369951225	chr4:79437179-79437180	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182591793	chr4:79437184-79437185	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6842676	chr4:79437197-79437198	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562716006	chr4:79437222-79437223	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188219302	chr4:79437224-79437225	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548219931	chr4:79437244-79437245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75802990	chr4:79437249-79437250	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527561455	chr4:79437404-79437405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542597398	chr4:79437416-79437417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547371261	chr4:79437428-79437429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79359736	chr4:79437432-79437433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192793414	chr4:79437487-79437488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549461099	chr4:79437488-79437489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528329798	chr4:79437513-79437514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59658562	chr4:79437546-79437547	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536031788	chr4:79437563-79437564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142257108	chr4:79437589-79437590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552367409	chr4:79437662-79437663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146238703	chr4:79437678-79437679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534961305	chr4:79437683-79437684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114822652	chr4:79437735-79437736	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183570904	chr4:79437774-79437775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187621215	chr4:79437831-79437832	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61185935	chr4:79437837-79437838	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs57356999	chr4:79437903-79437904	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147822591	chr4:79437920-79437921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs137959885	chr4:79437962-79437963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34775828	chr4:79437965-79437966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148451520	chr4:79437966-79437967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
4	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
5	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
7	chr4:79403200-79449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:79404200-79450200	Weak transcription	HMEC	breast
9	chr4:79410200-79443600	Weak transcription	HSMMtube	muscle
10	chr4:79410200-79461800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:79410800-79439800	Weak transcription	Fetal Lung	lung
12	chr4:79418000-79437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:79420400-79445000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:79421800-79445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:79426800-79455000	Weak transcription	Esophagus	oesophagus
16	chr4:79427800-79439400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:79428000-79437400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr4:79428000-79437400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:79428000-79438400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:79428200-79466200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:79428400-79437400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:79428600-79437600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:79428600-79449800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:79428600-79459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:79430200-79439800	Weak transcription	Left Ventricle	heart
26	chr4:79430200-79456000	Weak transcription	Aorta	Aorta
27	chr4:79430200-79456000	Weak transcription	Pancreas	Pancrea
28	chr4:79430600-79451400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:79430800-79454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:79432200-79448600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:79433000-79438200	Weak transcription	Gastric	stomach
32	chr4:79434600-79437200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:79434600-79437400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr4:79435400-79443600	Weak transcription	Fetal Intestine Large	intestine
35	chr4:79435400-79447200	Weak transcription	Fetal Kidney	kidney
36	chr4:79435600-79439800	Weak transcription	Fetal Stomach	stomach
37	chr4:79435600-79455600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:79435600-79463000	Weak transcription	Fetal Heart	heart
39	chr4:79435600-79467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:79435800-79439800	Weak transcription	HepG2	liver
41	chr4:79436200-79437400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:79436400-79437400	Strong transcription	Fetal Intestine Small	intestine
43	chr4:79437200-79446800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:79437400-79439800	Weak transcription	Fetal Intestine Small	intestine
45	chr4:79437400-79440000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:79437400-79440000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:79437400-79440200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:79437400-79440200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:79437400-79440400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:79437600-79442400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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