Variant report

Variant	nsv882740
Chromosome Location	chr5:115482794-115540041
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	BHLHE40	chr5:115482933-115482935	K562	blood:	n/a	n/a
2	CBX3	chr5:115509774-115510264	HCT-116	colon:	n/a	n/a
3	CBX3	chr5:115511708-115512163	HCT-116	colon:	n/a	n/a
4	CEBPB	chr5:115490011-115490177	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:115511494-115511805	IMR90	lung:	n/a	chr5:115511652-115511663
6	CEBPB	chr5:115497933-115498209	A549	lung:	n/a	chr5:115498150-115498161
7	CEBPB	chr5:115497969-115498167	K562	blood:	n/a	chr5:115498150-115498161
8	CEBPB	chr5:115488542-115488745	K562	blood:	n/a	chr5:115488664-115488677
9	CEBPB	chr5:115497905-115498301	HepG2	liver:	n/a	chr5:115498150-115498161
10	CEBPB	chr5:115511551-115511792	K562	blood:	n/a	chr5:115511652-115511663
11	CEBPB	chr5:115498007-115498261	Hela-S3	cervix:	n/a	chr5:115498150-115498161
12	CEBPB	chr5:115511524-115511726	HepG2	liver:	n/a	chr5:115511652-115511663
13	CTCF	chr5:115499018-115499081	Fibrobl	skin:	n/a	n/a
14	CTCF	chr5:115527000-115527150	GM06990	blood:	n/a	n/a
15	CTCF	chr5:115514460-115514610	BE2_C	brain:	n/a	n/a
16	CTCF	chr5:115490120-115490270	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:115526780-115526930	HepG2	liver:	n/a	n/a
18	CTCF	chr5:115495000-115495150	HPAF	blood vessel:	n/a	n/a
19	CTCF	chr5:115505914-115505969	LNCaP	prostate:	n/a	n/a
20	CTCF	chr5:115514420-115514570	HCPEpiC	choroid plexus:	n/a	n/a
21	CUX1	chr5:115488845-115488892	GM12878	blood:	n/a	n/a
22	E2F4	chr5:115483409-115483638	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr5:115511876-115512190	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr5:115511871-115512146	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr5:115511949-115512080	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr5:115511882-115512082	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA1	chr5:115490653-115491008	HepG2	liver:	n/a	chr5:115490811-115490826
28	FOXA1	chr5:115490043-115490196	T-47D	breast:	n/a	n/a
29	FOXA1	chr5:115490663-115490990	HepG2	liver:	n/a	chr5:115490811-115490826
30	FOXA1	chr5:115489965-115490352	HepG2	liver:	n/a	n/a
31	FOXA1	chr5:115490693-115490906	HepG2	liver:	n/a	chr5:115490811-115490826
32	FOXA1	chr5:115490652-115491022	HepG2	liver:	n/a	chr5:115490811-115490826
33	FOXA2	chr5:115490731-115490893	HepG2	liver:	n/a	n/a
34	FOXA2	chr5:115490054-115490269	HepG2	liver:	n/a	n/a
35	GABPA	chr5:115493871-115493987	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr5:115493849-115493999	GM12878	blood:	n/a	n/a
37	GABPA	chr5:115493837-115493993	GM12878	blood:	n/a	n/a
38	GATA2	chr5:115496861-115497155	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr5:115532809-115533271	MCF-7	breast:	n/a	n/a
40	GATA3	chr5:115532851-115533266	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr5:115532827-115533270	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr5:115496759-115497061	SH-SY5Y	brain:	n/a	n/a
43	GTF2F1	chr5:115527179-115527209	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr5:115493860-115494013	HepG2	liver:	n/a	n/a
45	KAP1	chr5:115489477-115489980	U2OS	brain:	n/a	n/a
46	KAP1	chr5:115489279-115489931	HEK293	kidney:	n/a	chr5:115489438-115489446
47	KAT2A	chr5:115486637-115487008	GM12878	blood:	n/a	n/a
48	MAFF	chr5:115514692-115514972	K562	blood:	n/a	chr5:115514809-115514827 chr5:115514815-115514829
49	MAFF	chr5:115514640-115514985	HepG2	liver:	n/a	chr5:115514809-115514827 chr5:115514815-115514829
50	MAFK	chr5:115514716-115514894	H1-hESC	embryonic stem cell:	n/a	chr5:115514815-115514829 chr5:115514812-115514832 chr5:115514814-115514830

No.	Distal block	Cell Line	Cell type
1	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:
2	chr5:115473230..115475072-chr5:115489118..115491844,2	MCF-7	breast:
3	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:
4	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-644P	TF binding region
ENSG00000232916	chromatin interactions

Extended variants
information (count: 3124 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3124 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6594950	chr5:115482794-115482795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80035490	chr5:115482809-115482810	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7709791	chr5:115482837-115482838	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7709439	chr5:115482861-115482862	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs143941877	chr5:115482874-115482875	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10715015	chr5:115482882-115482883	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74470270	chr5:115482883-115482884	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536077946	chr5:115482888-115482889	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556288259	chr5:115482893-115482894	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56812763	chr5:115482895-115482896	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538772998	chr5:115482916-115482917	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148651201	chr5:115482917-115482918	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78466954	chr5:115482946-115482947	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540983283	chr5:115482951-115482952	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554866856	chr5:115482963-115482964	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189079766	chr5:115482964-115482965	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10478282	chr5:115483034-115483035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563936799	chr5:115483047-115483048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577363232	chr5:115483077-115483078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181675327	chr5:115483096-115483097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564933711	chr5:115483127-115483128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527285124	chr5:115483135-115483136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142057160	chr5:115483136-115483137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73253267	chr5:115483144-115483145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568459177	chr5:115483157-115483158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6873369	chr5:115483182-115483183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185608913	chr5:115483222-115483223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569876098	chr5:115483224-115483225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73253269	chr5:115483278-115483279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552259602	chr5:115483293-115483294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190763424	chr5:115483305-115483306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182019886	chr5:115483321-115483322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554984694	chr5:115483329-115483330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536533008	chr5:115483341-115483342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574721922	chr5:115483428-115483429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537796695	chr5:115483452-115483453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139114779	chr5:115483455-115483456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577378733	chr5:115483462-115483463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74448887	chr5:115483517-115483518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564994172	chr5:115483527-115483528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185266158	chr5:115483552-115483553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34095633	chr5:115483571-115483572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541110596	chr5:115483579-115483580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79076552	chr5:115483635-115483636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529652462	chr5:115483638-115483639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10478283	chr5:115483653-115483654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs563393235	chr5:115483671-115483672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532199510	chr5:115483735-115483736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551921021	chr5:115483738-115483739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565525214	chr5:115483810-115483811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115462600-115502000	Weak transcription	Fetal Intestine Large	intestine
2	chr5:115468200-115494400	Weak transcription	Primary T cells from cord blood	blood
3	chr5:115468600-115501400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:115470600-115487400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:115471600-115483400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:115472800-115500200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:115472800-115500400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:115473600-115494800	Weak transcription	Fetal Kidney	kidney
10	chr5:115473600-115495200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:115480200-115483800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:115480800-115482800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:115481200-115488000	Weak transcription	Fetal Heart	heart
14	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:115481800-115484000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:115482800-115483000	Active TSS	Primary hematopoietic stem cells	blood
17	chr5:115482800-115483000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr5:115484000-115484400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
19	chr5:115484400-115510000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:115488000-115489800	Enhancers	Fetal Heart	heart
22	chr5:115488400-115501200	Weak transcription	Psoas Muscle	Psoas
23	chr5:115489000-115489200	Enhancers	Pancreas	Pancrea
24	chr5:115489000-115489800	Enhancers	Ovary	ovary
25	chr5:115489000-115489800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:115489000-115490000	Enhancers	Left Ventricle	heart
27	chr5:115489200-115489400	Enhancers	Colon Smooth Muscle	Colon
28	chr5:115489200-115490800	Enhancers	HepG2	liver
29	chr5:115489200-115491000	Enhancers	Liver	Liver
30	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
31	chr5:115489800-115494600	Weak transcription	Fetal Heart	heart
32	chr5:115489800-115528600	Weak transcription	Ovary	ovary
33	chr5:115490000-115491000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
35	chr5:115491600-115492400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr5:115492800-115504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:115493000-115493400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:115493400-115493600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr5:115493400-115494600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr5:115493600-115494600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr5:115493800-115494400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr5:115494000-115504400	Weak transcription	Aorta	Aorta
43	chr5:115494400-115495200	Strong transcription	Primary T cells from cord blood	blood
44	chr5:115494600-115495200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:115494600-115495200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:115494600-115495200	Enhancers	Adipose Nuclei	Adipose
47	chr5:115494600-115495400	Enhancers	Fetal Heart	heart
48	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:115494800-115495200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:115494800-115495400	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links