Variant report

Variant	esv3325197
Chromosome Location	chr4:87701463-87701922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537430990	chr4:87701478-87701479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs33998999	chr4:87701495-87701496	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567825203	chr4:87701502-87701503	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71305580	chr4:87701517-87701518	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67562047	chr4:87701518-87701519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368199406	chr4:87701540-87701541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371776305	chr4:87701593-87701594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201207003	chr4:87701622-87701623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374976425	chr4:87701655-87701656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190987214	chr4:87701660-87701661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541087617	chr4:87701707-87701708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553053927	chr4:87701732-87701733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574691082	chr4:87701736-87701737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28718854	chr4:87701786-87701787	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs28663463	chr4:87701802-87701803	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531081571	chr4:87701832-87701833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368425313	chr4:87701836-87701837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546489677	chr4:87701908-87701909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87631200-87712200	Weak transcription	Aorta	Aorta
2	chr4:87635200-87737400	Weak transcription	Fetal Brain Male	brain
3	chr4:87639400-87739200	Weak transcription	A549	lung
4	chr4:87642400-87735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:87642600-87719200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:87655600-87704400	Weak transcription	Hela-S3	cervix
7	chr4:87661600-87710200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:87661600-87711400	Weak transcription	Brain Germinal Matrix	brain
9	chr4:87661600-87712000	Weak transcription	Esophagus	oesophagus
10	chr4:87661600-87737800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:87661800-87708000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:87661800-87712000	Weak transcription	Fetal Intestine Small	intestine
13	chr4:87661800-87728800	Weak transcription	Pancreas	Pancrea
14	chr4:87663000-87711400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:87671800-87713000	Weak transcription	HSMMtube	muscle
16	chr4:87672000-87712200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:87672800-87710000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:87672800-87712000	Weak transcription	Lung	lung
19	chr4:87677000-87711400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:87677200-87708600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:87679000-87712000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:87679000-87712400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:87679400-87702200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:87681000-87710200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:87682200-87701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:87684400-87710000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:87686200-87712200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:87688600-87708000	Weak transcription	Fetal Stomach	stomach
29	chr4:87689400-87738200	Weak transcription	Gastric	stomach
30	chr4:87690000-87738800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:87690800-87736000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:87691000-87704600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:87691400-87712000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:87691600-87708400	Weak transcription	Left Ventricle	heart
35	chr4:87692800-87703400	Weak transcription	Fetal Intestine Large	intestine
36	chr4:87692800-87708000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr4:87692800-87734200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:87693000-87706800	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:87693000-87712000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:87693000-87712200	Weak transcription	Fetal Brain Female	brain
41	chr4:87693600-87710000	Weak transcription	Ovary	ovary
42	chr4:87693800-87706600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:87693800-87708000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:87694400-87724800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr4:87694400-87725200	Weak transcription	NH-A	brain
46	chr4:87694400-87735600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:87695200-87711400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:87695600-87728600	Weak transcription	Adipose Nuclei	Adipose
49	chr4:87696400-87702200	Strong transcription	NHEK	skin
50	chr4:87696800-87733600	Weak transcription	NHLF	lung

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