Variant report

Variant	nsv967770
Chromosome Location	chr4:87699054-87700991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189217460	chr4:87699059-87699060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35646072	chr4:87699094-87699095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397811053	chr4:87699096-87699097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28404766	chr4:87699098-87699099	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571767049	chr4:87699194-87699195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186362183	chr4:87699264-87699265	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554177584	chr4:87699343-87699344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565624710	chr4:87699430-87699431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189243039	chr4:87699442-87699443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554233235	chr4:87699456-87699457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116186232	chr4:87699478-87699479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28481577	chr4:87699484-87699485	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181652855	chr4:87699510-87699511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576979987	chr4:87699513-87699514	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541281540	chr4:87699578-87699579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558800168	chr4:87699593-87699594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185830825	chr4:87699608-87699609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527684871	chr4:87699610-87699611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543076412	chr4:87699611-87699612	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555746219	chr4:87699631-87699632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs70948797	chr4:87699632-87699633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71305579	chr4:87699633-87699634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs70948798	chr4:87699635-87699636	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561344270	chr4:87699641-87699642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71605617	chr4:87699665-87699666	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370150541	chr4:87699746-87699747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544000095	chr4:87699787-87699788	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191639452	chr4:87699790-87699791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571770824	chr4:87699814-87699815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28570548	chr4:87699875-87699876	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74461556	chr4:87699876-87699877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548065211	chr4:87699879-87699880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566071796	chr4:87699883-87699884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116050349	chr4:87699915-87699916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533069260	chr4:87699961-87699962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370072752	chr4:87699975-87699976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569332243	chr4:87700020-87700021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71657584	chr4:87700052-87700053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71657585	chr4:87700085-87700086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536714938	chr4:87700097-87700098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558381315	chr4:87700119-87700120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181309623	chr4:87700156-87700157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534563299	chr4:87700169-87700170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553224996	chr4:87700188-87700189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574811993	chr4:87700192-87700193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369377471	chr4:87700213-87700214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74466282	chr4:87700232-87700233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58996030	chr4:87700233-87700234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112088403	chr4:87700234-87700235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28405358	chr4:87700384-87700385	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:104 , 50 per page) page: 1 2 3

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	chr4:87676200-87699600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:87677000-87711400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:87677200-87708600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:87678800-87699800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:87679000-87712000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:87679000-87712400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:87679200-87699800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:87679400-87700200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:87679400-87702200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:87681000-87710200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:87682200-87701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:87684400-87710000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:87685000-87699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:87685800-87699600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:87685800-87699800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:87686200-87712200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:87686400-87699800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:87687200-87699800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:87688600-87708000	Weak transcription	Fetal Stomach	stomach
38	chr4:87689400-87738200	Weak transcription	Gastric	stomach
39	chr4:87690000-87738800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:87690600-87699600	Strong transcription	Fetal Lung	lung
41	chr4:87690800-87736000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:87691000-87704600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:87691400-87699600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:87691400-87712000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:87691600-87708400	Weak transcription	Left Ventricle	heart
46	chr4:87692800-87703400	Weak transcription	Fetal Intestine Large	intestine
47	chr4:87692800-87708000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:87692800-87734200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:87693000-87706800	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:87693000-87712000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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