Variant report

Variant	nsv516854
Chromosome Location	chr5:178936722-178944407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr5:178939455-178939724	GM12878	blood:	n/a	chr5:178939580-178939591
2	EBF1	chr5:178939479-178939759	GM12878	blood:	n/a	chr5:178939580-178939591
3	EGR1	chr5:178943722-178944360	GM12878	blood:	n/a	n/a
4	FOXA2	chr5:178941518-178941911	A549	lung:	n/a	n/a
5	GABPA	chr5:178943832-178944289	GM12878	blood:	n/a	n/a
6	IRF4	chr5:178943792-178944382	GM12878	blood:	n/a	n/a
7	MAX	chr5:178939845-178940080	K562	blood:	n/a	n/a
8	NR3C1	chr5:178943752-178944205	A549	lung:	n/a	n/a
9	NR3C1	chr5:178941529-178941783	A549	lung:	n/a	n/a
10	PAX5	chr5:178943793-178944387	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:178938970-178939150	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:178941541-178941687	H1-hESC	embryonic stem cell:	n/a	n/a
13	SPI1	chr5:178936069-178936821	GM12878	blood:	n/a	chr5:178936415-178936428 chr5:178936419-178936426
14	SPI1	chr5:178936895-178937263	HL-60	blood:	n/a	n/a
15	STAT3	chr5:178938680-178938880	MCF10A-Er-Src	breast:	n/a	n/a
16	TEAD4	chr5:178941267-178941655	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZBTB33	chr5:178943807-178944097	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPH1-3	chr5:178942465-178942580	ENSG00000253652

Variant related genes	Relation type
ENSG00000253652	TF binding region

Extended variants
information (count: 413 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9329079	chr5:178936722-178936723	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs111815035	chr5:178936747-178936748	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528600890	chr5:178936793-178936794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534422993	chr5:178936801-178936802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138148916	chr5:178936804-178936805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142723269	chr5:178936810-178936811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550832118	chr5:178936837-178936838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74399900	chr5:178936874-178936875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372699161	chr5:178936905-178936906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536402925	chr5:178936916-178936917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146057676	chr5:178936947-178936948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202015467	chr5:178936948-178936949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369646409	chr5:178936959-178936960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142112886	chr5:178936960-178936961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72822543	chr5:178936962-178936963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs377417026	chr5:178936974-178936975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147480363	chr5:178936982-178936983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375787745	chr5:178936983-178936984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201585400	chr5:178936988-178936989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199801593	chr5:178937049-178937050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558264698	chr5:178937054-178937055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562238411	chr5:178937070-178937071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376571448	chr5:178937090-178937091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370750797	chr5:178937091-178937092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375270088	chr5:178937094-178937095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557598885	chr5:178937100-178937101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575858999	chr5:178937114-178937115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543198062	chr5:178937133-178937134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115922737	chr5:178937160-178937161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546408437	chr5:178937171-178937172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573520020	chr5:178937217-178937218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540718094	chr5:178937245-178937246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371356887	chr5:178937304-178937305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72822544	chr5:178937314-178937315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188191774	chr5:178937368-178937369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562969659	chr5:178937386-178937387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191798205	chr5:178937431-178937432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532279847	chr5:178937432-178937433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116295569	chr5:178937433-178937434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115501761	chr5:178937449-178937450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527510885	chr5:178937485-178937486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551827349	chr5:178937487-178937488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570469618	chr5:178937488-178937489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568749116	chr5:178937490-178937491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140205984	chr5:178937492-178937493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375845008	chr5:178937502-178937503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555890383	chr5:178937516-178937517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568096378	chr5:178937517-178937518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374611075	chr5:178937539-178937540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143880765	chr5:178937547-178937548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178933000-178943200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:178934600-178936800	Enhancers	Primary B cells from cord blood	blood
3	chr5:178934600-178937000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:178934800-178937000	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:178935000-178937000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:178935400-178937200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:178936000-178936800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:178936000-178936800	Enhancers	Fetal Kidney	kidney
9	chr5:178936400-178936800	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:178936400-178936800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:178936400-178936800	Enhancers	Thymus	Thymus
12	chr5:178936400-178937000	Enhancers	Fetal Lung	lung
13	chr5:178936600-178936800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:178936600-178939400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:178936800-178937000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:178936800-178937400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:178936800-178937400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:178937000-178939600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:178937000-178939600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:178937000-178939800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:178937400-178939600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:178937400-178940000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:178937600-178939800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:178937800-178938000	Enhancers	Fetal Brain Male	brain
25	chr5:178938400-178938600	Enhancers	Placenta	Placenta
26	chr5:178939400-178940000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:178939600-178940600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:178939600-178940600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:178939600-178940600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:178939600-178941000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:178939600-178941000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:178939600-178941200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:178939800-178940800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:178939800-178940800	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:178939800-178941000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:178940000-178940600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr5:178940000-178942200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:178940400-178943000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:178940600-178942200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:178940800-178941000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:178941000-178942200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:178941000-178946800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:178941200-178942200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:178942000-178943600	Enhancers	HepG2	liver
45	chr5:178942200-178942400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:178942200-178942400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:178942200-178942400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:178942200-178942400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr5:178942200-178942400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr5:178942200-178943200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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