Variant report

Variant	nsv528013
Chromosome Location	chr5:147298497-147302941
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	CTCF	chr5:147300660-147300810	HA-sp	spinal cord:	n/a	n/a
2	FOS	chr5:147299521-147299663	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr5:147298626-147298798	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr5:147299470-147299656	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr5:147298607-147298785	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:147298545-147298749	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:147299494-147299588	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:147299220-147299655	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA2	chr5:147300726-147301041	SH-SY5Y	brain:	n/a	n/a
10	GATA2	chr5:147300622-147301144	HUVEC	blood vessel:	n/a	n/a
11	GATA3	chr5:147300566-147301111	MCF-7	breast:	n/a	chr5:147300901-147300909
12	GATA3	chr5:147300660-147301118	T-47D	breast:	n/a	chr5:147300901-147300909
13	GATA3	chr5:147300788-147301098	T-47D	breast:	n/a	chr5:147300901-147300909
14	POLR2A	chr5:147301980-147302025	A549	lung:	n/a	n/a
15	POLR2A	chr5:147300213-147300573	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr5:147300204-147300572	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr5:147299150-147299221	MCF10A-Er-Src	breast:	n/a	n/a
18	SPI1	chr5:147300606-147301261	HL-60	blood:	n/a	n/a
19	SPI1	chr5:147302314-147302535	GM12891	blood:	n/a	n/a
20	SPI1	chr5:147300761-147300998	K562	blood:	n/a	n/a
21	SPI1	chr5:147300734-147300944	K562	blood:	n/a	n/a
22	SPI1	chr5:147300723-147300981	GM12891	blood:	n/a	n/a
23	SPI1	chr5:147300596-147301159	HL-60	blood:	n/a	n/a
24	STAT3	chr5:147299532-147299653	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr5:147299538-147299599	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr5:147299673-147299705	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr5:147301995-147302049	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr5:147300626-147300826	MCF10A-Er-Src	breast:	n/a	n/a
29	TBL1XR1	chr5:147300850-147300879	K562	blood:	n/a	n/a
30	ZNF274	chr5:147299666-147300204	K562	blood:	n/a	n/a

Variant related genes	Relation type
EEF1GP2	TF binding region

Extended variants
information (count: 195 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2400440	chr5:147298497-147298498	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535761934	chr5:147298514-147298515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114176135	chr5:147298523-147298524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143971846	chr5:147298543-147298544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540195667	chr5:147298570-147298571	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558144369	chr5:147298609-147298610	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs146639175	chr5:147298699-147298700	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs561600431	chr5:147298702-147298703	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs543930037	chr5:147298715-147298716	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs562340939	chr5:147298731-147298732	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs77645493	chr5:147298752-147298753	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs1864994	chr5:147298827-147298828	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs561074754	chr5:147298828-147298829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6874765	chr5:147298847-147298848	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552573249	chr5:147298856-147298857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188321126	chr5:147298857-147298858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17774569	chr5:147298865-147298866	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs6860845	chr5:147298919-147298920	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568469349	chr5:147298927-147298928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570358690	chr5:147298940-147298941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371279374	chr5:147298941-147298942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79401504	chr5:147298942-147298943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3069813	chr5:147298944-147298945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71274366	chr5:147298945-147298946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1864995	chr5:147298953-147298954	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566336598	chr5:147298964-147298965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539773353	chr5:147298997-147298998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371843102	chr5:147299033-147299034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576471229	chr5:147299041-147299042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1864996	chr5:147299080-147299081	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556177222	chr5:147299115-147299116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141380178	chr5:147299139-147299140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574457279	chr5:147299155-147299156	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs1864997	chr5:147299172-147299173	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560108774	chr5:147299206-147299207	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs76551557	chr5:147299232-147299233	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs546149848	chr5:147299246-147299247	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs199668598	chr5:147299274-147299275	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs535176742	chr5:147299275-147299276	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs79606379	chr5:147299316-147299317	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs145161976	chr5:147299317-147299318	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs568508997	chr5:147299330-147299331	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs529391880	chr5:147299348-147299349	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs547949524	chr5:147299358-147299359	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs566176423	chr5:147299381-147299382	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs539734680	chr5:147299383-147299384	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs529682256	chr5:147299477-147299478	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs17107473	chr5:147299503-147299504	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10055303	chr5:147299506-147299507	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35145829	chr5:147299517-147299518	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147292400-147300400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:147297200-147298600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:147297400-147299000	Enhancers	NHEK	skin
4	chr5:147297600-147298800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:147297600-147299400	Enhancers	Hela-S3	cervix
6	chr5:147297800-147299400	Enhancers	NH-A	brain
7	chr5:147298000-147298800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:147298000-147298800	Enhancers	HMEC	breast
9	chr5:147298000-147299600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:147298000-147300200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:147298200-147300200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:147298400-147299800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:147298400-147300400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:147298800-147299400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:147298800-147300600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:147300200-147301600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:147300200-147302200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:147300400-147301200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:147300400-147301400	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:147300400-147301600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:147300600-147300800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:147300600-147301000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:147300600-147301200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:147300600-147301200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:147300600-147302600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:147301200-147306600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:147301600-147302000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:147302000-147302200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:147302200-147306600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:147302800-147303000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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