Variant report

Variant	nsv882742
Chromosome Location	chr5:115489770-115584159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:245)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:245 , 50 per page) page: 1 2 3 4 5

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	BACH1	chr5:115573174-115573254	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr5:115509774-115510264	HCT-116	colon:	n/a	n/a
4	CBX3	chr5:115511708-115512163	HCT-116	colon:	n/a	n/a
5	CEBPB	chr5:115511551-115511792	K562	blood:	n/a	chr5:115511652-115511663
6	CEBPB	chr5:115497933-115498209	A549	lung:	n/a	chr5:115498150-115498161
7	CEBPB	chr5:115511524-115511726	HepG2	liver:	n/a	chr5:115511652-115511663
8	CEBPB	chr5:115497905-115498301	HepG2	liver:	n/a	chr5:115498150-115498161
9	CEBPB	chr5:115497969-115498167	K562	blood:	n/a	chr5:115498150-115498161
10	CEBPB	chr5:115511494-115511805	IMR90	lung:	n/a	chr5:115511652-115511663
11	CEBPB	chr5:115498007-115498261	Hela-S3	cervix:	n/a	chr5:115498150-115498161
12	CEBPB	chr5:115490011-115490177	HepG2	liver:	n/a	n/a
13	CEBPB	chr5:115584135-115584482	HepG2	liver:	n/a	chr5:115584298-115584309 chr5:115584300-115584311
14	CEBPB	chr5:115584119-115584488	MCF-7	breast:	n/a	chr5:115584298-115584309 chr5:115584300-115584311
15	CTCF	chr5:115573740-115573890	HEK293	kidney:	n/a	n/a
16	CTCF	chr5:115573700-115573850	HMF	breast:	n/a	n/a
17	CTCF	chr5:115573740-115573890	HVMF	connective:	n/a	n/a
18	CTCF	chr5:115573740-115573890	NHLF	lung:	n/a	n/a
19	CTCF	chr5:115573680-115573830	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr5:115573760-115573910	GM12873	blood:	n/a	n/a
21	CTCF	chr5:115573740-115573890	GM12878	blood:	n/a	n/a
22	CTCF	chr5:115545600-115545750	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr5:115573780-115573930	HCM	heart:	n/a	n/a
24	CTCF	chr5:115573800-115573950	GM12867	blood:	n/a	n/a
25	CTCF	chr5:115514460-115514610	BE2_C	brain:	n/a	n/a
26	CTCF	chr5:115573720-115573870	AoAF	blood vessel:	n/a	n/a
27	CTCF	chr5:115573660-115573810	NHEK	skin:	n/a	n/a
28	CTCF	chr5:115573740-115573890	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr5:115573740-115573890	BJ	skin:	n/a	n/a
30	CTCF	chr5:115573740-115573890	SAEC	small airway:	n/a	n/a
31	CTCF	chr5:115573740-115573890	AG04450	lung:	n/a	n/a
32	CTCF	chr5:115573660-115573890	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr5:115573739-115573920	GM12878	blood:	n/a	n/a
34	CTCF	chr5:115514420-115514570	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr5:115573720-115573870	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr5:115573760-115573910	HMEC	breast:	n/a	n/a
37	CTCF	chr5:115573680-115573830	HFF	foreskin:	n/a	n/a
38	CTCF	chr5:115573740-115573890	HAc	cerebellar:	n/a	n/a
39	CTCF	chr5:115573695-115573940	IMR90	lung:	n/a	n/a
40	CTCF	chr5:115573740-115573890	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:115573680-115573830	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr5:115573760-115573910	RPTEC	kidney:	n/a	n/a
43	CTCF	chr5:115573751-115573867	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr5:115573794-115573825	MCF-7	breast:	n/a	n/a
45	CTCF	chr5:115573700-115573850	HMEC	breast:	n/a	n/a
46	CTCF	chr5:115573680-115573830	GM12871	blood:	n/a	n/a
47	CTCF	chr5:115573749-115573829	HepG2	liver:	n/a	n/a
48	CTCF	chr5:115573720-115573870	BJ	skin:	n/a	n/a
49	CTCF	chr5:115573680-115573830	GM12866	blood:	n/a	n/a
50	CTCF	chr5:115573740-115573890	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

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	chr5:115473230..115475072-chr5:115489118..115491844,2	MCF-7	breast:
5	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:
6	chr5:115573428..115574084-chr5:115607901..115608709,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 5020 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:5020 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6594954	chr5:115489770-115489771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560812321	chr5:115489778-115489779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148451721	chr5:115489791-115489792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549591026	chr5:115489826-115489827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569089986	chr5:115489827-115489828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187878556	chr5:115489833-115489834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386691442	chr5:115489855-115489856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200346873	chr5:115489858-115489859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570123678	chr5:115489864-115489865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539373647	chr5:115489883-115489884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544322639	chr5:115489885-115489886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561775192	chr5:115489926-115489927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142631991	chr5:115489950-115489951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371202378	chr5:115489990-115489991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10055039	chr5:115490065-115490066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs77140879	chr5:115490076-115490077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555628593	chr5:115490078-115490079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147903142	chr5:115490082-115490083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62385214	chr5:115490094-115490095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75125040	chr5:115490113-115490114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372171017	chr5:115490116-115490117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577977852	chr5:115490165-115490166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540588520	chr5:115490170-115490171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560273338	chr5:115490223-115490224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529622543	chr5:115490243-115490244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183008330	chr5:115490274-115490275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73253279	chr5:115490293-115490294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531751269	chr5:115490314-115490315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73253281	chr5:115490336-115490337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570497443	chr5:115490345-115490346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374523370	chr5:115490384-115490385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532803909	chr5:115490385-115490386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141690373	chr5:115490389-115490390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367721545	chr5:115490399-115490400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563720072	chr5:115490416-115490417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187295790	chr5:115490418-115490419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535785415	chr5:115490421-115490422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555687639	chr5:115490424-115490425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192693631	chr5:115490458-115490459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537990639	chr5:115490459-115490460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199748612	chr5:115490483-115490484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35133023	chr5:115490485-115490486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549069221	chr5:115490486-115490487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74713275	chr5:115490494-115490495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558301097	chr5:115490510-115490511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578075330	chr5:115490513-115490514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184550033	chr5:115490515-115490516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13357632	chr5:115490534-115490535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145460928	chr5:115490542-115490543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542923743	chr5:115490555-115490556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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	22037309	CNVD
Ependymoma	20639864	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:115472800-115500200	Weak transcription	Primary B cells from cord blood	blood
6	chr5:115472800-115500400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:115473600-115494800	Weak transcription	Fetal Kidney	kidney
8	chr5:115473600-115495200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:115484400-115510000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:115488000-115489800	Enhancers	Fetal Heart	heart
13	chr5:115488400-115501200	Weak transcription	Psoas Muscle	Psoas
14	chr5:115489000-115489800	Enhancers	Ovary	ovary
15	chr5:115489000-115489800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr5:115489000-115490000	Enhancers	Left Ventricle	heart
17	chr5:115489200-115490800	Enhancers	HepG2	liver
18	chr5:115489200-115491000	Enhancers	Liver	Liver
19	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
20	chr5:115489800-115494600	Weak transcription	Fetal Heart	heart
21	chr5:115489800-115528600	Weak transcription	Ovary	ovary
22	chr5:115490000-115491000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
24	chr5:115491600-115492400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:115492800-115504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:115493000-115493400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:115493400-115493600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr5:115493400-115494600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr5:115493600-115494600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr5:115493800-115494400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr5:115494000-115504400	Weak transcription	Aorta	Aorta
32	chr5:115494400-115495200	Strong transcription	Primary T cells from cord blood	blood
33	chr5:115494600-115495200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:115494600-115495200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:115494600-115495200	Enhancers	Adipose Nuclei	Adipose
36	chr5:115494600-115495400	Enhancers	Fetal Heart	heart
37	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:115494800-115495200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr5:115494800-115495400	Enhancers	Fetal Kidney	kidney
40	chr5:115494800-115495400	Enhancers	GM12878-XiMat	blood
41	chr5:115494800-115495800	Enhancers	Brain Substantia Nigra	brain
42	chr5:115495000-115495200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:115495000-115495400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:115495000-115495400	Enhancers	Gastric	stomach
45	chr5:115495000-115495400	Enhancers	Spleen	Spleen
46	chr5:115495200-115495400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:115495200-115495400	Genic enhancers	Primary T cells from cord blood	blood
48	chr5:115495200-115504600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:115495200-115521600	Weak transcription	Adipose Nuclei	Adipose
50	chr5:115495200-115524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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