Variant report

Variant	nsv829980
Chromosome Location	chr4:80442108-80468775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMP2K-1	chr4:80448451-80448970	l_2674_chr4:80088967-80336103_prostate
2	lnc-BMP2K-1	chr4:80446864-80446906	l_2674_chr4:80088967-80336103_prostate

Extended variants
information (count: 504 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190806954	chr4:80446868-80446869	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs71612980	chr4:80447002-80447003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544388308	chr4:80447008-80447009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552403475	chr4:80447036-80447037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554418541	chr4:80447086-80447087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182793416	chr4:80447106-80447107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79866730	chr4:80447129-80447130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559739741	chr4:80447136-80447137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111696578	chr4:80447142-80447143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374896272	chr4:80447159-80447160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546123137	chr4:80447182-80447183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567533711	chr4:80447425-80447426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72666339	chr4:80447426-80447427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372725885	chr4:80447493-80447494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539830763	chr4:80447503-80447504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192397672	chr4:80447618-80447619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569133868	chr4:80447656-80447657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537710665	chr4:80447686-80447687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150149637	chr4:80447695-80447696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554767270	chr4:80447804-80447805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536685571	chr4:80447821-80447822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574267215	chr4:80447847-80447848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116779770	chr4:80447872-80447873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74539596	chr4:80448010-80448011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548357598	chr4:80448084-80448085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76271195	chr4:80448095-80448096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553436073	chr4:80448175-80448176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373002452	chr4:80448179-80448180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576471514	chr4:80448190-80448191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376236538	chr4:80448198-80448199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113134392	chr4:80448205-80448206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545391485	chr4:80448224-80448225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562298814	chr4:80448259-80448260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576688972	chr4:80448262-80448263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542128772	chr4:80448326-80448327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562333936	chr4:80448343-80448344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184508627	chr4:80448354-80448355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553383873	chr4:80448481-80448482	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs547949833	chr4:80448503-80448504	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs564566245	chr4:80448505-80448506	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs61107663	chr4:80448539-80448540	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs550156253	chr4:80448551-80448552	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs187437466	chr4:80448571-80448572	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs538166209	chr4:80448585-80448586	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs116115854	chr4:80448586-80448587	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs138576397	chr4:80448636-80448637	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs114472149	chr4:80448644-80448645	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs553499318	chr4:80448683-80448684	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs28735401	chr4:80448691-80448692	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539121049	chr4:80448692-80448693	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80447000-80447200	Enhancers	Dnd41	blood
2	chr4:80447400-80448200	Enhancers	Fetal Brain Male	brain
3	chr4:80447400-80449000	Weak transcription	Dnd41	blood
4	chr4:80448200-80448400	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:80448200-80448400	Enhancers	Fetal Brain Female	brain
6	chr4:80448200-80453800	Weak transcription	Fetal Brain Male	brain
7	chr4:80448400-80449000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:80448400-80449400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:80448600-80449200	Weak transcription	Fetal Brain Female	brain
10	chr4:80448800-80450000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:80449000-80449400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:80449000-80449600	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:80449000-80450400	Enhancers	Dnd41	blood
14	chr4:80449200-80449400	Enhancers	Fetal Brain Female	brain
15	chr4:80449200-80449600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:80449200-80450000	Enhancers	Primary T cells from cord blood	blood
17	chr4:80449400-80449800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:80449400-80449800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:80449400-80449800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:80449400-80449800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:80449400-80450000	Weak transcription	Fetal Brain Female	brain
22	chr4:80449400-80450000	Enhancers	Fetal Thymus	thymus
23	chr4:80449800-80450000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:80449800-80450000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:80450200-80450400	Enhancers	Fetal Brain Female	brain
26	chr4:80450600-80452400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:80452400-80454400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:80454400-80455400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:80455200-80456200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:80455200-80456200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:80455400-80456200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:80455600-80456200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:80455800-80456400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:80458600-80459000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:80461200-80461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:80465000-80478200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr4:80466600-80467000	Enhancers	K562	blood
38	chr4:80466800-80467000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr4:80466800-80467200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr4:80466800-80467600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
41	chr4:80467000-80468200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:80467200-80468200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:80467600-80485600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:80467800-80468400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr4:80468200-80468400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr4:80468200-80468800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr4:80468200-80469200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr4:80468400-80469200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:80468400-80470000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:80468400-80471800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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