Variant report

Variant	nsv437412
Chromosome Location	chr4:110995217-111006785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 585 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1468220	chr4:110995217-110995218	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372819889	chr4:110995233-110995234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562487784	chr4:110995245-110995246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529521677	chr4:110995270-110995271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548150353	chr4:110995279-110995280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184371106	chr4:110995326-110995327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561361587	chr4:110995386-110995387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146088553	chr4:110995405-110995406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566679099	chr4:110995450-110995451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188826724	chr4:110995452-110995453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138896370	chr4:110995558-110995559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62325300	chr4:110995570-110995571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530300100	chr4:110995601-110995602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568994566	chr4:110995612-110995613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181646240	chr4:110995642-110995643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6858635	chr4:110995658-110995659	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10033691	chr4:110995710-110995711	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185817671	chr4:110995714-110995715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531121686	chr4:110995739-110995740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190343816	chr4:110995791-110995792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181067212	chr4:110995795-110995796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554010039	chr4:110995813-110995814	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6858695	chr4:110995818-110995819	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs141931760	chr4:110995903-110995904	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556326493	chr4:110995915-110995916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150829784	chr4:110995918-110995919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114897349	chr4:110995931-110995932	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112197963	chr4:110995989-110995990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541507464	chr4:110996102-110996103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547574803	chr4:110996104-110996105	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79206367	chr4:110996158-110996159	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10024683	chr4:110996171-110996172	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs371723227	chr4:110996191-110996192	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553377292	chr4:110996205-110996206	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116226330	chr4:110996236-110996237	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141515211	chr4:110996369-110996370	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139390865	chr4:110996385-110996386	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375689490	chr4:110996387-110996388	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566205323	chr4:110996432-110996433	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72676988	chr4:110996443-110996444	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185116299	chr4:110996469-110996470	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190274298	chr4:110996544-110996545	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548300699	chr4:110996582-110996583	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568394134	chr4:110996621-110996622	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534100100	chr4:110996651-110996652	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560182220	chr4:110996709-110996710	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554072580	chr4:110996730-110996731	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72898551	chr4:110996750-110996751	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539670078	chr4:110996751-110996752	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562114130	chr4:110996758-110996759	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110964600-111004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:110970800-110995800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:110980200-111004000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:110981000-110997000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:110981000-111004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:110981400-111006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:110981400-111009200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:110982000-110995800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:110982000-111003800	Weak transcription	NHEK	skin
11	chr4:110982600-110996200	Weak transcription	Dnd41	blood
12	chr4:110984000-110998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:110984000-111006200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:110985600-111006000	Weak transcription	Fetal Intestine Small	intestine
15	chr4:110986200-111009400	Weak transcription	NHLF	lung
16	chr4:110986800-111006000	Weak transcription	HepG2	liver
17	chr4:110989800-110996000	Weak transcription	HSMM	muscle
18	chr4:110990400-111006400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:110990600-110996400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:110991800-111008400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:110992000-110995400	Enhancers	Fetal Heart	heart
22	chr4:110992400-111010000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:110993000-110997400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:110993000-110998400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:110993000-111004000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
27	chr4:110994000-110997200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:110994000-111004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:110994600-110996200	Weak transcription	GM12878-XiMat	blood
30	chr4:110994800-111006000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:110995000-110996200	Weak transcription	K562	blood
32	chr4:110995000-110996400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:110995000-110997200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:110995000-110999400	Weak transcription	Ovary	ovary
35	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:110995200-110996400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:110995200-111008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:110995800-110996200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr4:110996000-110996200	Enhancers	HSMM	muscle
40	chr4:110996200-110996400	Enhancers	Dnd41	blood
41	chr4:110996200-110996400	Flanking Active TSS	GM12878-XiMat	blood
42	chr4:110996200-110997600	Genic enhancers	K562	blood
43	chr4:110996400-110996600	Enhancers	GM12878-XiMat	blood
44	chr4:110996400-110997600	Weak transcription	Dnd41	blood
45	chr4:110996400-110999000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:110996400-111004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:110996400-111006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:110996600-110996800	Flanking Active TSS	GM12878-XiMat	blood
49	chr4:110997200-111004000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:110997400-111004200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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