Variant report

Variant	nsv470068
Chromosome Location	chr4:118296960-118327792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	4:118327401-118331084..4:118559839-118566258	GM12878	blood:
2	4:118319405-118319911..4:118687551-118689447	H1-hESC	embryonic stem cell:	embryo
3	4:118312235-118312291..4:118319405-118319911	H1-hESC	embryonic stem cell:	embryo
4	4:118313000-118315008..4:118319405-118319911	H1-hESC	embryonic stem cell:	embryo
5	4:118319405-118319911..4:118454469-118464115	H1-hESC	embryonic stem cell:	embryo
6	4:118320200-118324249..4:118722741-118723956	H1-hESC	embryonic stem cell:	embryo
7	4:118320200-118324249..4:118559839-118566258	GM12878	blood:
8	4:118313000-118315008..4:118319405-118319911	H1-hESC	embryonic stem cell:	embryo
9	4:118301798-118302725..4:118541860-118551269	H1-hESC	embryonic stem cell:	embryo
10	4:118319405-118319911..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
11	4:118312235-118312291..4:118636913-118638401	H1-hESC	embryonic stem cell:	embryo
12	4:118320200-118324249..4:118414019-118416561	Hela-S3	cervix:
13	4:118320200-118324249..4:118735152-118737645	GM12878	blood:
14	4:118312235-118312291..4:118319405-118319911	H1-hESC	embryonic stem cell:	embryo

No data

Extended variants
information (count: 999 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:999 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13340324	chr4:118296961-118296962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535876474	chr4:118296966-118296967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555669787	chr4:118296978-118296979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535943270	chr4:118296997-118296998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555930645	chr4:118296998-118296999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374984419	chr4:118297048-118297049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17861816	chr4:118297081-118297082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544786791	chr4:118297109-118297110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184555293	chr4:118297121-118297122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13340325	chr4:118297122-118297123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529284173	chr4:118297124-118297125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540571359	chr4:118297139-118297140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549143276	chr4:118297150-118297151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559294896	chr4:118297157-118297158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56827696	chr4:118297213-118297214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189386271	chr4:118297234-118297235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180777188	chr4:118297255-118297256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184230688	chr4:118297315-118297316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530536161	chr4:118297316-118297317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138449170	chr4:118297340-118297341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17867077	chr4:118297342-118297343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531863667	chr4:118297353-118297354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533253866	chr4:118297354-118297355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552059445	chr4:118297356-118297357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189601911	chr4:118297411-118297412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181250654	chr4:118297462-118297463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535878410	chr4:118297473-118297474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571498075	chr4:118297481-118297482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34379704	chr4:118297482-118297483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555818396	chr4:118297483-118297484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58692359	chr4:118297491-118297492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10034473	chr4:118297556-118297557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185896227	chr4:118297585-118297586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190464697	chr4:118297595-118297596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566262161	chr4:118297638-118297639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4309912	chr4:118297655-118297656	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs554199747	chr4:118297694-118297695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17869730	chr4:118297716-118297717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs17864974	chr4:118297730-118297731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181620128	chr4:118297780-118297781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575201759	chr4:118297782-118297783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561357374	chr4:118297803-118297804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186314381	chr4:118297807-118297808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544023878	chr4:118297817-118297818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192029116	chr4:118297822-118297823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533013808	chr4:118297846-118297847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556666123	chr4:118297855-118297856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12330989	chr4:118297903-118297904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542232241	chr4:118297914-118297915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566625432	chr4:118297917-118297918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118282000-118302000	Weak transcription	HMEC	breast
2	chr4:118294400-118297400	Weak transcription	Fetal Brain Male	brain
3	chr4:118295800-118306200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:118297400-118297800	Enhancers	Fetal Brain Male	brain
5	chr4:118302000-118302400	Enhancers	HMEC	breast
6	chr4:118303800-118304600	Weak transcription	Fetal Brain Male	brain
7	chr4:118304600-118306000	Enhancers	Fetal Brain Male	brain
8	chr4:118306000-118307200	Weak transcription	Fetal Brain Male	brain
9	chr4:118306200-118307200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:118306600-118307800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:118306800-118307200	Enhancers	Brain Anterior Caudate	brain
12	chr4:118307000-118307600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:118307200-118307600	Enhancers	Fetal Brain Male	brain
14	chr4:118307200-118308000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:118307200-118309200	Weak transcription	Brain Anterior Caudate	brain
16	chr4:118307200-118321000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:118309200-118309800	Enhancers	Brain Anterior Caudate	brain
18	chr4:118309400-118309600	Enhancers	Fetal Brain Male	brain
19	chr4:118313800-118322200	Weak transcription	Pancreas	Pancrea
20	chr4:118320600-118321000	Enhancers	HSMM	muscle
21	chr4:118320600-118321000	Enhancers	HUVEC	blood vessel
22	chr4:118320800-118321000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:118320800-118321000	Enhancers	Dnd41	blood
24	chr4:118320800-118321200	Enhancers	NH-A	brain
25	chr4:118321000-118321400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:118321000-118321400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:118321000-118321400	Active TSS	Brain Cingulate Gyrus	brain
28	chr4:118321000-118321400	Enhancers	HMEC	breast
29	chr4:118321000-118321400	Flanking Active TSS	HSMM	muscle
30	chr4:118321000-118321600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:118321000-118321600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:118321000-118321600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:118321000-118321600	Flanking Active TSS	Dnd41	blood
34	chr4:118321000-118321600	Flanking Active TSS	HUVEC	blood vessel
35	chr4:118321000-118321600	Active TSS	Osteobl	bone
36	chr4:118321000-118321800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:118321000-118321800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:118321000-118321800	Enhancers	NHEK	skin
39	chr4:118321200-118321400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:118321200-118321400	Enhancers	Brain Hippocampus Middle	brain
41	chr4:118321200-118321600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:118321200-118321600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:118321200-118321600	Enhancers	Brain Angular Gyrus	brain
44	chr4:118321200-118321600	Flanking Active TSS	NH-A	brain
45	chr4:118321200-118322200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:118321400-118322400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:118321400-118322400	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:118321400-118322800	Enhancers	HSMM	muscle
49	chr4:118321600-118321800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:118321600-118321800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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