Variant report

Variant	nsv517251
Chromosome Location	chr5:145622472-145630737
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	chr5:145629456-145629710	GM12878	blood:	n/a	n/a
2	FOXA1	chr5:145623205-145623546	HepG2	liver:	n/a	n/a
3	IRF1	chr5:145623241-145623362	K562	blood:	n/a	n/a
4	POLR2A	chr5:145628750-145629152	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:145625579-145625588	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:145626078-145626079	K562	blood:	n/a	n/a
7	POLR2A	chr5:145624475-145624552	K562	blood:	n/a	n/a
8	POLR2A	chr5:145623731-145623768	K562	blood:	n/a	n/a
9	POLR2A	chr5:145626102-145626112	K562	blood:	n/a	n/a
10	POLR2A	chr5:145625535-145626038	K562	blood:	n/a	n/a
11	POLR2A	chr5:145623274-145623459	K562	blood:	n/a	n/a
12	POLR2A	chr5:145622425-145622695	K562	blood:	n/a	n/a
13	POLR2A	chr5:145623575-145623580	MCF10A-Er-Src	breast:	n/a	n/a
14	SPI1	chr5:145629443-145629664	GM12891	blood:	n/a	chr5:145629550-145629557 chr5:145629548-145629561 chr5:145629549-145629558 chr5:145629547-145629560
15	SPI1	chr5:145629318-145629738	HL-60	blood:	n/a	chr5:145629550-145629557 chr5:145629548-145629561 chr5:145629549-145629558 chr5:145629547-145629560
16	STAT3	chr5:145627779-145627979	MCF10A-Er-Src	breast:	n/a	n/a
17	TBP	chr5:145630557-145630700	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:145625814..145628687-chr5:145636719..145638380,2	K562	blood:
2	chr5:145625443..145628007-chr5:145629715..145633107,5	K562	blood:
3	chr5:145625869..145628007-chr5:145631607..145633546,2	K562	blood:
4	chr5:145625443..145628007-chr5:145629715..145633107,5	K562	blood:

Variant related genes	Relation type
RNU7-180P	TF binding region

Extended variants
information (count: 276 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13173462	chr5:145622472-145622473	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574288925	chr5:145622497-145622498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183167911	chr5:145622518-145622519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559984254	chr5:145622526-145622527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369088608	chr5:145622571-145622572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538416871	chr5:145622603-145622604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372549660	chr5:145622635-145622636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188444291	chr5:145622636-145622637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558344668	chr5:145622702-145622703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192040304	chr5:145622733-145622734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561089003	chr5:145622816-145622817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571788326	chr5:145622825-145622826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540774986	chr5:145622838-145622839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549638600	chr5:145622893-145622894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148924489	chr5:145622901-145622902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562157387	chr5:145622917-145622918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145384487	chr5:145622918-145622919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34470786	chr5:145622983-145622984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72806113	chr5:145623021-145623022	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565635537	chr5:145623074-145623075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11958136	chr5:145623087-145623088	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs554377823	chr5:145623142-145623143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373503693	chr5:145623156-145623157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574250356	chr5:145623279-145623280	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184809752	chr5:145623284-145623285	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556873529	chr5:145623394-145623395	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187717238	chr5:145623409-145623410	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545061895	chr5:145623415-145623416	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565323983	chr5:145623425-145623426	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563174541	chr5:145623430-145623431	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543057377	chr5:145623438-145623439	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532283136	chr5:145623465-145623466	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552451596	chr5:145623482-145623483	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561070402	chr5:145623483-145623484	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529820372	chr5:145623485-145623486	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192323835	chr5:145623501-145623502	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563235489	chr5:145623586-145623587	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183626136	chr5:145623610-145623611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115761741	chr5:145623646-145623647	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72806115	chr5:145623768-145623769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189337262	chr5:145623774-145623775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548238489	chr5:145623780-145623781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568188503	chr5:145623870-145623871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6580411	chr5:145623898-145623899	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs556834424	chr5:145623911-145623912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563171491	chr5:145623919-145623920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576804291	chr5:145623964-145623965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539272359	chr5:145623988-145623989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564216383	chr5:145624007-145624008	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377741936	chr5:145624012-145624013	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Acute myeloid leukemia	16864856	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
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145584800-145631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:145589000-145633200	Weak transcription	Brain Angular Gyrus	brain
3	chr5:145593400-145651000	Weak transcription	Stomach Mucosa	stomach
4	chr5:145594600-145624200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:145597000-145668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:145597200-145640600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:145598000-145627200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:145598000-145632200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:145598200-145623600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:145598200-145640400	Weak transcription	Psoas Muscle	Psoas
11	chr5:145598400-145629600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:145598400-145640400	Weak transcription	Fetal Heart	heart
13	chr5:145598800-145640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:145599800-145640200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:145601600-145623800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:145601800-145648200	Weak transcription	Fetal Brain Male	brain
17	chr5:145602200-145625400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:145602600-145647000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:145602600-145653800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:145602800-145626800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:145606000-145622600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:145606400-145625600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:145606600-145630000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:145610400-145630800	Weak transcription	NHEK	skin
25	chr5:145610400-145639800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:145610600-145630800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:145611000-145628200	Weak transcription	Gastric	stomach
28	chr5:145611000-145628200	Weak transcription	HepG2	liver
29	chr5:145611000-145640600	Weak transcription	Colonic Mucosa	Colon
30	chr5:145611200-145670600	Weak transcription	Small Intestine	intestine
31	chr5:145613200-145633200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:145613200-145634400	Weak transcription	Fetal Kidney	kidney
33	chr5:145613200-145641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:145613400-145631200	Weak transcription	Brain Hippocampus Middle	brain
35	chr5:145613400-145640400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:145613400-145658800	Weak transcription	Pancreas	Pancrea
37	chr5:145614000-145624000	Weak transcription	NHLF	lung
38	chr5:145614200-145631200	Weak transcription	NH-A	brain
39	chr5:145614200-145632000	Weak transcription	HSMM	muscle
40	chr5:145615200-145626600	Strong transcription	Fetal Thymus	thymus
41	chr5:145616200-145631200	Weak transcription	HMEC	breast
42	chr5:145617000-145624400	Weak transcription	Thymus	Thymus
43	chr5:145617000-145628600	Weak transcription	Esophagus	oesophagus
44	chr5:145617200-145623600	Weak transcription	K562	blood
45	chr5:145617200-145626800	Weak transcription	Hela-S3	cervix
46	chr5:145617200-145629600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:145617200-145631200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:145617400-145629200	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:145617400-145631200	Weak transcription	Brain Anterior Caudate	brain
50	chr5:145617400-145631200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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