Variant report

Variant	esv3325085
Chromosome Location	chr4:79137953-79140501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571867064	chr4:79137958-79137959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541320454	chr4:79137970-79137971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4510481	chr4:79137973-79137974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190969421	chr4:79137977-79137978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543081955	chr4:79138002-79138003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537804916	chr4:79138013-79138014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563249186	chr4:79138069-79138070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115211267	chr4:79138080-79138081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566230369	chr4:79138100-79138101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368451625	chr4:79138106-79138107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528790544	chr4:79138112-79138113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182678744	chr4:79138144-79138145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10522971	chr4:79138235-79138236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35489810	chr4:79138236-79138237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71214401	chr4:79138254-79138255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559993441	chr4:79138255-79138256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371385645	chr4:79138310-79138311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150378290	chr4:79138375-79138376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551942707	chr4:79138385-79138386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187957206	chr4:79138393-79138394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552040776	chr4:79138423-79138424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531213270	chr4:79138439-79138440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550719840	chr4:79138479-79138480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567287501	chr4:79138499-79138500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192583622	chr4:79138512-79138513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71611006	chr4:79138559-79138560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1878440	chr4:79138565-79138566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144974919	chr4:79138603-79138604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555886383	chr4:79138606-79138607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184024722	chr4:79138625-79138626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71611007	chr4:79138634-79138635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116824101	chr4:79138648-79138649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1878441	chr4:79138660-79138661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557007802	chr4:79138726-79138727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573633832	chr4:79138728-79138729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75178738	chr4:79138763-79138764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542643155	chr4:79138800-79138801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116518279	chr4:79138820-79138821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572879975	chr4:79138847-79138848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7686101	chr4:79138857-79138858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs565448212	chr4:79138894-79138895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531125439	chr4:79138907-79138908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550820680	chr4:79138955-79138956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560947788	chr4:79138974-79138975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187217063	chr4:79139076-79139077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192292735	chr4:79139093-79139094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184676689	chr4:79139098-79139099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557916195	chr4:79139115-79139116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540449922	chr4:79139152-79139153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376398402	chr4:79139187-79139188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79121600-79139400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:79124200-79139400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:79126600-79139200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:79129400-79138600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:79129400-79139600	Weak transcription	Pancreas	Pancrea
6	chr4:79131200-79142600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:79131600-79139400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:79132800-79139400	Weak transcription	Fetal Intestine Large	intestine
9	chr4:79134600-79139600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:79135000-79143400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:79136000-79139200	Weak transcription	HepG2	liver
12	chr4:79136200-79139800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:79137200-79138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:79137200-79138200	Enhancers	Fetal Heart	heart
15	chr4:79137600-79138600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:79137600-79141000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:79137800-79138200	Enhancers	Fetal Intestine Small	intestine
18	chr4:79137800-79138400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:79137800-79138800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:79137800-79138800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:79137800-79138800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:79137800-79140000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr4:79138000-79138600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:79138200-79139400	Weak transcription	Fetal Heart	heart
25	chr4:79138200-79139400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:79138400-79139400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:79138600-79138800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:79138600-79139800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:79138600-79142800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:79138600-79143800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:79138800-79139200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:79138800-79139200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:79138800-79139200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:79138800-79141200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:79139200-79140000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:79139200-79140000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:79139200-79140000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:79139200-79140400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:79139200-79142000	Enhancers	HepG2	liver
40	chr4:79139400-79139800	Enhancers	Fetal Intestine Small	intestine
41	chr4:79139400-79140000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr4:79139400-79140000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:79139400-79140000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:79139400-79140000	Enhancers	Fetal Heart	heart
45	chr4:79139400-79140000	Enhancers	Fetal Intestine Large	intestine
46	chr4:79139400-79141400	Enhancers	Fetal Lung	lung
47	chr4:79139400-79141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:79139600-79140000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:79139600-79140000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:79139600-79140000	Enhancers	Esophagus	oesophagus

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