Variant report

Variant	nsv521454
Chromosome Location	chr4:80598796-80654020
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:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:80623187..80625432-chr4:80633610..80635287,2	MCF-7	breast:
2	chr4:80648491..80650120-chr4:80667527..80670366,2	K562	blood:
3	chr4:80604769..80607470-chr4:80609950..80612780,2	K562	blood:
4	chr4:80604769..80607470-chr4:80609950..80612780,2	K562	blood:
5	chr4:80623187..80625432-chr4:80633610..80635287,2	MCF-7	breast:
6	chr4:80619168..80620918-chr4:80690936..80692886,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRDM8-8	chr4:80632771-80632952	ucscGeneNc_uc003hlv_2
2	lnc-PRDM8-2	chr4:80617567-80617991	XLOC_003588
3	lnc-PRDM8-2	chr4:80611142-80611230	XLOC_003588
4	lnc-PRDM8-8	chr4:80653963-80654080	ucscGeneNc_uc003hlv_2
5	lnc-PRDM8-8	chr4:80633330-80633763	ucscGeneNc_uc003hlv_2

No data

Extended variants
information (count: 836 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13123790	chr4:80598796-80598797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373161504	chr4:80598808-80598809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560079136	chr4:80598813-80598814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13129374	chr4:80598817-80598818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552180160	chr4:80598878-80598879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563727209	chr4:80598897-80598898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4975108	chr4:80598917-80598918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531842207	chr4:80598928-80598929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548448135	chr4:80598930-80598931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548653216	chr4:80598935-80598936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184081838	chr4:80598993-80598994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189217646	chr4:80599021-80599022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547848410	chr4:80599055-80599056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115273012	chr4:80599058-80599059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181670369	chr4:80599092-80599093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62297309	chr4:80599094-80599095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534426649	chr4:80599100-80599101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34873981	chr4:80599126-80599127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73828504	chr4:80599156-80599157	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556162940	chr4:80599175-80599176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576011379	chr4:80599181-80599182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199638518	chr4:80599187-80599188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555241688	chr4:80599292-80599293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72866878	chr4:80599306-80599307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374044959	chr4:80599316-80599317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201690291	chr4:80599321-80599322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4353927	chr4:80599323-80599324	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564016897	chr4:80599374-80599375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376348511	chr4:80599389-80599390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187309265	chr4:80599394-80599395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12643010	chr4:80599420-80599421	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562903968	chr4:80599435-80599436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12639849	chr4:80599446-80599447	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs5859696	chr4:80599474-80599475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548679978	chr4:80599500-80599501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149058810	chr4:80599506-80599507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375492335	chr4:80599551-80599552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143049586	chr4:80599552-80599553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114480106	chr4:80599553-80599554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571152529	chr4:80599620-80599621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545266011	chr4:80599627-80599628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549463294	chr4:80599644-80599645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569653482	chr4:80599733-80599734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375625937	chr4:80599771-80599772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563918721	chr4:80599777-80599778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535165859	chr4:80599780-80599781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190455832	chr4:80599968-80599969	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs571835597	chr4:80600024-80600025	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138504687	chr4:80600025-80600026	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142266294	chr4:80600046-80600047	Enhancers Flanking Active TSS Weak transcription	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
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
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80597600-80599800	Enhancers	Dnd41	blood
2	chr4:80597800-80599800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:80597800-80601200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:80598000-80599800	Enhancers	K562	blood
5	chr4:80598400-80598800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:80598400-80601000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:80598600-80598800	Enhancers	Fetal Thymus	thymus
8	chr4:80598800-80599000	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:80598800-80599800	Weak transcription	Fetal Thymus	thymus
10	chr4:80598800-80600800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:80599000-80599800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:80599800-80600000	Enhancers	Aorta	Aorta
13	chr4:80599800-80600200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:80599800-80600200	Flanking Active TSS	K562	blood
15	chr4:80599800-80600200	Enhancers	NH-A	brain
16	chr4:80599800-80600600	Flanking Active TSS	Dnd41	blood
17	chr4:80599800-80601200	Enhancers	Primary hematopoietic stem cells	blood
18	chr4:80599800-80601600	Enhancers	Fetal Thymus	thymus
19	chr4:80600000-80604000	Weak transcription	Aorta	Aorta
20	chr4:80600200-80601200	Enhancers	K562	blood
21	chr4:80600200-80601400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:80600200-80603200	Weak transcription	NH-A	brain
23	chr4:80600600-80601600	Enhancers	Dnd41	blood
24	chr4:80601200-80606000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:80601600-80605800	Weak transcription	Dnd41	blood
26	chr4:80602800-80604600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr4:80603200-80604400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:80603200-80604400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:80603200-80604400	Enhancers	NH-A	brain
30	chr4:80603400-80603800	Enhancers	Stomach Smooth Muscle	stomach
31	chr4:80603400-80604400	Enhancers	Brain Germinal Matrix	brain
32	chr4:80603400-80604600	Enhancers	Colon Smooth Muscle	Colon
33	chr4:80603600-80603800	Enhancers	Brain Hippocampus Middle	brain
34	chr4:80603600-80604200	Active TSS	Brain Cingulate Gyrus	brain
35	chr4:80603800-80604200	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr4:80603800-80604200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr4:80603800-80604200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr4:80603800-80604600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:80604000-80604200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr4:80604000-80604400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:80604000-80604400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:80604000-80604400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:80604000-80604400	Enhancers	Aorta	Aorta
44	chr4:80604000-80604400	Enhancers	Brain Anterior Caudate	brain
45	chr4:80604000-80604400	Enhancers	Brain Substantia Nigra	brain
46	chr4:80604000-80604400	Enhancers	Fetal Muscle Trunk	muscle
47	chr4:80604000-80604400	Enhancers	Fetal Muscle Leg	muscle
48	chr4:80604000-80604400	Enhancers	Gastric	stomach
49	chr4:80604000-80604400	Enhancers	Psoas Muscle	Psoas
50	chr4:80604000-80604600	Enhancers	Fetal Brain Male	brain

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