Variant report

Variant	nsv1021381
Chromosome Location	chr5:115509949-115568193
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	ARID3A	chr5:115567073-115567351	HepG2	liver:	n/a	n/a
2	CBX3	chr5:115511708-115512163	HCT-116	colon:	n/a	n/a
3	CBX3	chr5:115509774-115510264	HCT-116	colon:	n/a	n/a
4	CEBPB	chr5:115511551-115511792	K562	blood:	n/a	chr5:115511652-115511663
5	CEBPB	chr5:115511494-115511805	IMR90	lung:	n/a	chr5:115511652-115511663
6	CEBPB	chr5:115511524-115511726	HepG2	liver:	n/a	chr5:115511652-115511663
7	CTCF	chr5:115527000-115527150	GM06990	blood:	n/a	n/a
8	CTCF	chr5:115526780-115526930	HepG2	liver:	n/a	n/a
9	CTCF	chr5:115514420-115514570	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr5:115546959-115547004	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr5:115545600-115545750	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr5:115514460-115514610	BE2_C	brain:	n/a	n/a
13	CTCF	chr5:115563372-115563423	GM13976	blood:	n/a	n/a
14	EBF1	chr5:115553101-115553358	GM12878	blood:	n/a	n/a
15	EP300	chr5:115562218-115562251	K562	blood:	n/a	n/a
16	FOS	chr5:115511876-115512190	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr5:115511949-115512080	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr5:115511882-115512082	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr5:115511871-115512146	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr5:115546868-115547069	T-47D	breast:	n/a	n/a
21	FOXA1	chr5:115566987-115567294	HepG2	liver:	n/a	n/a
22	FOXA1	chr5:115566970-115567367	HepG2	liver:	n/a	n/a
23	FOXA1	chr5:115567003-115567403	HepG2	liver:	n/a	n/a
24	FOXA2	chr5:115567029-115567293	HepG2	liver:	n/a	n/a
25	FOXA2	chr5:115546874-115547055	HepG2	liver:	n/a	n/a
26	GATA3	chr5:115532851-115533266	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr5:115540807-115540886	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr5:115555733-115556106	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr5:115532827-115533270	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr5:115532809-115533271	MCF-7	breast:	n/a	n/a
31	GATA3	chr5:115562600-115562894	SH-SY5Y	brain:	n/a	n/a
32	GTF2F1	chr5:115527179-115527209	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUN	chr5:115541691-115541827	HepG2	liver:	n/a	chr5:115541725-115541738
34	JUN	chr5:115560931-115560946	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUND	chr5:115554589-115554765	HepG2	liver:	n/a	n/a
36	KAP1	chr5:115544780-115545020	K562	blood:	n/a	n/a
37	MAFF	chr5:115514692-115514972	K562	blood:	n/a	chr5:115514809-115514827 chr5:115514815-115514829
38	MAFF	chr5:115514640-115514985	HepG2	liver:	n/a	chr5:115514809-115514827 chr5:115514815-115514829
39	MAFK	chr5:115514662-115514973	K562	blood:	n/a	chr5:115514815-115514829 chr5:115514812-115514832 chr5:115514814-115514830
40	MAFK	chr5:115514642-115514986	HepG2	liver:	n/a	chr5:115514815-115514829 chr5:115514812-115514832 chr5:115514814-115514830
41	MAFK	chr5:115514650-115514979	HepG2	liver:	n/a	chr5:115514815-115514829 chr5:115514812-115514832 chr5:115514814-115514830
42	MAFK	chr5:115514716-115514894	H1-hESC	embryonic stem cell:	n/a	chr5:115514815-115514829 chr5:115514812-115514832 chr5:115514814-115514830
43	MAFK	chr5:115546142-115546411	HepG2	liver:	n/a	chr5:115546288-115546299 chr5:115546284-115546300 chr5:115546287-115546301 chr5:115546289-115546300 chr5:115546288-115546299 chr5:115546289-115546300
44	MAFK	chr5:115546140-115546435	IMR90	lung:	n/a	chr5:115546288-115546299 chr5:115546284-115546300 chr5:115546287-115546301 chr5:115546289-115546300 chr5:115546288-115546299 chr5:115546289-115546300
45	MAFK	chr5:115514702-115514970	Hela-S3	cervix:	n/a	chr5:115514815-115514829 chr5:115514812-115514832 chr5:115514814-115514830
46	MAFK	chr5:115555495-115555627	HepG2	liver:	n/a	n/a
47	MAFK	chr5:115514697-115514996	IMR90	lung:	n/a	chr5:115514815-115514829 chr5:115514812-115514832 chr5:115514814-115514830
48	MYC	chr5:115511920-115512140	MCF10A-Er-Src	breast:	n/a	n/a
49	MYC	chr5:115548513-115548606	H1-hESC	embryonic stem cell:	n/a	chr5:115548588-115548599 chr5:115548588-115548599
50	NFYA	chr5:115547516-115547716	GM12878	blood:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LVRN.1-3	chr5:115549572-115550152	NONHSAT103355
2	lnc-SEMA6A-7	chr5:115553723-115553992	NONHSAT103356

Variant related genes	Relation type
HMGN2P27	TF binding region
RNU6-644P	TF binding region
ENSG00000212457	chromatin interactions
ENSG00000232916	chromatin interactions

Extended variants
information (count: 3026 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3026 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138345130	chr5:115509991-115509992	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149188349	chr5:115510001-115510002	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529959875	chr5:115510004-115510005	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143364875	chr5:115510017-115510018	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371332023	chr5:115510042-115510043	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532315552	chr5:115510053-115510054	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138969892	chr5:115510058-115510059	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558714823	chr5:115510070-115510071	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141601909	chr5:115510092-115510093	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535079467	chr5:115510106-115510107	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116281728	chr5:115510124-115510125	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554126336	chr5:115510134-115510135	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146220807	chr5:115510135-115510136	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184689376	chr5:115510149-115510150	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557406690	chr5:115510175-115510176	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577445892	chr5:115510176-115510177	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188909942	chr5:115510191-115510192	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181924135	chr5:115510249-115510250	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs137872942	chr5:115510250-115510251	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74883104	chr5:115510317-115510318	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200546277	chr5:115510320-115510321	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61258238	chr5:115510322-115510323	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71829948	chr5:115510323-115510324	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150586746	chr5:115510369-115510370	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529675401	chr5:115510385-115510386	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531416990	chr5:115510389-115510390	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62384189	chr5:115510391-115510392	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs569899090	chr5:115510424-115510425	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532427882	chr5:115510494-115510495	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552095850	chr5:115510502-115510503	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs565821102	chr5:115510507-115510508	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs535147643	chr5:115510514-115510515	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs61263877	chr5:115510525-115510526	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139664888	chr5:115510527-115510528	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs149746198	chr5:115510557-115510558	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113036704	chr5:115510562-115510563	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577475334	chr5:115510586-115510587	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540076204	chr5:115510589-115510590	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73255169	chr5:115510591-115510592	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573066602	chr5:115510630-115510631	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144525829	chr5:115510641-115510642	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560677275	chr5:115510642-115510643	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58562899	chr5:115510667-115510668	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547678157	chr5:115510709-115510710	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574190616	chr5:115510735-115510736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543056406	chr5:115510738-115510739	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563256348	chr5:115510771-115510772	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567319497	chr5:115510791-115510792	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532308636	chr5:115510792-115510793	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114324806	chr5:115510794-115510795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Ependymoma	20639864	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:115484400-115510000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
6	chr5:115489800-115528600	Weak transcription	Ovary	ovary
7	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
8	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:115495200-115521600	Weak transcription	Adipose Nuclei	Adipose
10	chr5:115495200-115524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:115497400-115528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:115499200-115527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:115501200-115511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:115502400-115524400	Weak transcription	Fetal Intestine Large	intestine
15	chr5:115502400-115526400	Weak transcription	Lung	lung
16	chr5:115502800-115521600	Weak transcription	Primary T cells from cord blood	blood
17	chr5:115508200-115518400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:115508400-115517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:115508800-115529200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:115509200-115528400	Weak transcription	A549	lung
21	chr5:115509400-115510200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr5:115509400-115510800	Strong transcription	Primary B cells from cord blood	blood
23	chr5:115509400-115511800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:115509600-115510200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:115509600-115510400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:115509600-115533400	Weak transcription	HSMM	muscle
27	chr5:115509800-115510200	ZNF genes & repeats	Liver	Liver
28	chr5:115509800-115510200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr5:115509800-115510400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr5:115509800-115510600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr5:115510000-115510400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:115510200-115511400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:115510200-115521400	Weak transcription	Liver	Liver
34	chr5:115510200-115521600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:115510200-115522000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:115510400-115522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:115510400-115524600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:115510400-115526200	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:115510400-115526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:115510600-115514200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:115510800-115511800	Weak transcription	Primary B cells from cord blood	blood
42	chr5:115511400-115511800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:115511600-115512000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:115511600-115512000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:115511800-115512200	Strong transcription	Primary B cells from cord blood	blood
46	chr5:115511800-115512200	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr5:115511800-115512800	Enhancers	Right Atrium	heart
48	chr5:115511800-115533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:115512000-115529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:115512200-115521600	Weak transcription	Primary B cells from cord blood	blood

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