Variant report

Variant	esv3376337
Chromosome Location	chr4:86795153-86797901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561581502	chr4:86795163-86795164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2601866	chr4:86795170-86795171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572820117	chr4:86795184-86795185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114998934	chr4:86795265-86795266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2665875	chr4:86795293-86795294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2601865	chr4:86795301-86795302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555143381	chr4:86795302-86795303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573360114	chr4:86795309-86795310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191391423	chr4:86795347-86795348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2601864	chr4:86795362-86795363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs577594446	chr4:86795374-86795375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545360792	chr4:86795376-86795377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2601863	chr4:86795377-86795378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528012390	chr4:86795390-86795391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2601862	chr4:86795399-86795400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114493353	chr4:86795446-86795447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149459444	chr4:86795496-86795497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537866795	chr4:86795521-86795522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143845350	chr4:86795524-86795525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550277139	chr4:86795573-86795574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148651061	chr4:86795628-86795629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183458121	chr4:86795826-86795827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11721455	chr4:86795840-86795841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566384301	chr4:86795849-86795850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533842568	chr4:86795858-86795859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115365251	chr4:86795880-86795881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111842116	chr4:86795915-86795916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58338679	chr4:86795916-86795917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527886276	chr4:86795917-86795918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61386675	chr4:86795926-86795927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57603684	chr4:86795928-86795929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6813742	chr4:86795939-86795940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567765483	chr4:86795956-86795957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11725371	chr4:86795967-86795968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550174865	chr4:86795984-86795985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60071164	chr4:86795986-86795987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538972249	chr4:86795992-86795993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58844383	chr4:86795995-86795996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59201357	chr4:86796003-86796004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565832454	chr4:86796010-86796011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59228212	chr4:86796011-86796012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61219153	chr4:86796016-86796017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59349330	chr4:86796022-86796023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57954863	chr4:86796028-86796029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61028554	chr4:86796048-86796049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59352932	chr4:86796052-86796053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58996140	chr4:86796057-86796058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56748770	chr4:86796067-86796068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58467660	chr4:86796069-86796070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374267606	chr4:86796075-86796076	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86750000-86809200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86779800-86800200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:86788000-86795400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:86788000-86795400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:86788000-86797000	Weak transcription	Ovary	ovary
6	chr4:86788000-86804000	Weak transcription	Aorta	Aorta
7	chr4:86788000-86807400	Weak transcription	Left Ventricle	heart
8	chr4:86788000-86810800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:86788000-86812400	Weak transcription	HSMM	muscle
10	chr4:86788200-86812000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:86790800-86835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:86791000-86803600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:86791000-86804200	Weak transcription	HSMMtube	muscle
14	chr4:86791200-86795600	Weak transcription	Small Intestine	intestine
15	chr4:86791200-86844400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:86791600-86802000	Weak transcription	NHDF-Ad	bronchial
17	chr4:86791800-86795400	Weak transcription	Stomach Mucosa	stomach
18	chr4:86794600-86804800	Weak transcription	HUVEC	blood vessel
19	chr4:86794800-86805600	Weak transcription	Pancreas	Pancrea
20	chr4:86795000-86795800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:86795400-86795800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:86795400-86795800	Enhancers	Fetal Heart	heart
23	chr4:86795400-86795800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr4:86795400-86795800	Enhancers	Stomach Mucosa	stomach
25	chr4:86795600-86795800	Enhancers	Small Intestine	intestine
26	chr4:86795800-86796800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:86795800-86797000	Weak transcription	Stomach Mucosa	stomach
28	chr4:86796800-86797200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:86797000-86797200	Enhancers	Ovary	ovary
30	chr4:86797000-86797200	Enhancers	Psoas Muscle	Psoas
31	chr4:86797000-86797600	Enhancers	Stomach Mucosa	stomach
32	chr4:86797200-86797600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:86797600-86798000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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