Variant report

Variant	esv16694
Chromosome Location	chr4:79456127-79456647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373263069	chr4:79456182-79456183	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11098224	chr4:79456186-79456187	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12641956	chr4:79456190-79456191	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556047954	chr4:79456201-79456202	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111831933	chr4:79456211-79456212	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11098225	chr4:79456230-79456231	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78806039	chr4:79456246-79456247	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12639791	chr4:79456303-79456304	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552848610	chr4:79456367-79456368	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371385862	chr4:79456393-79456394	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12639818	chr4:79456404-79456405	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs12639828	chr4:79456480-79456481	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs533584444	chr4:79456499-79456500	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543989437	chr4:79456509-79456510	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564104408	chr4:79456514-79456515	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529576635	chr4:79456528-79456529	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549430478	chr4:79456529-79456530	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533486654	chr4:79456532-79456533	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28514647	chr4:79456533-79456534	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs528623957	chr4:79456540-79456541	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551842366	chr4:79456621-79456622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
3	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
5	chr4:79410200-79461800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:79428200-79466200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:79428600-79459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:79435600-79463000	Weak transcription	Fetal Heart	heart
9	chr4:79435600-79467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:79440600-79465800	Weak transcription	Lung	lung
11	chr4:79440600-79467200	Weak transcription	Left Ventricle	heart
12	chr4:79440800-79456200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:79442400-79465600	Weak transcription	Fetal Stomach	stomach
14	chr4:79444800-79472400	Weak transcription	Right Atrium	heart
15	chr4:79451400-79462800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:79451600-79461600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:79451800-79463400	Weak transcription	NHDF-Ad	bronchial
18	chr4:79451800-79463800	Weak transcription	NH-A	brain
19	chr4:79452000-79461600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:79453400-79464200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:79453400-79467200	Weak transcription	Placenta	Placenta
22	chr4:79453600-79457000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr4:79454200-79457600	Enhancers	HMEC	breast
24	chr4:79454400-79456800	Enhancers	NHEK	skin
25	chr4:79454600-79456800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:79454600-79456800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:79454600-79458600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:79454600-79463800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr4:79454800-79456600	Weak transcription	Primary B cells from cord blood	blood
30	chr4:79454800-79463600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:79455000-79456600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:79455000-79463400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:79455200-79456200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:79455200-79456200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:79455200-79456200	Enhancers	Brain Hippocampus Middle	brain
36	chr4:79455200-79456400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:79455200-79460400	Weak transcription	Esophagus	oesophagus
38	chr4:79455400-79456200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:79455400-79463200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:79455400-79464400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:79455600-79456200	Enhancers	Brain Substantia Nigra	brain
42	chr4:79455600-79456400	Strong transcription	Fetal Kidney	kidney
43	chr4:79455600-79456400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:79455600-79456800	Strong transcription	Fetal Lung	lung
45	chr4:79455600-79457200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:79455600-79457200	Strong transcription	Fetal Intestine Small	intestine
47	chr4:79455600-79457200	Strong transcription	HepG2	liver
48	chr4:79455600-79457600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:79455600-79459000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:79455600-79459200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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