Variant report

Variant	nsv882361
Chromosome Location	chr5:89302715-89357159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:326)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:89325088-89325104	K562	blood:	n/a	n/a
2	ATF2	chr5:89311271-89311824	GM12878	blood:	n/a	n/a
3	ATF2	chr5:89316878-89317453	GM12878	blood:	n/a	n/a
4	ATF2	chr5:89311212-89311793	GM12878	blood:	n/a	n/a
5	ATF2	chr5:89310166-89310730	GM12878	blood:	n/a	n/a
6	ATF2	chr5:89316841-89317441	GM12878	blood:	n/a	n/a
7	BACH1	chr5:89311361-89311732	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr5:89311303-89311767	GM12878	blood:	n/a	chr5:89311510-89311521
9	BATF	chr5:89316843-89317389	GM12878	blood:	n/a	chr5:89317104-89317115
10	BATF	chr5:89310261-89310584	GM12878	blood:	n/a	n/a
11	BATF	chr5:89316396-89316785	GM12878	blood:	n/a	n/a
12	BATF	chr5:89316940-89317309	GM12878	blood:	n/a	chr5:89317104-89317115
13	BATF	chr5:89311308-89311746	GM12878	blood:	n/a	chr5:89311510-89311521
14	BCL11A	chr5:89311362-89311659	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:89311315-89311715	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:89310237-89310570	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:89316939-89317303	GM12878	blood:	n/a	chr5:89317210-89317219
18	BCLAF1	chr5:89311266-89311736	GM12878	blood:	n/a	n/a
19	BCLAF1	chr5:89311216-89311821	GM12878	blood:	n/a	n/a
20	BCLAF1	chr5:89316847-89317395	GM12878	blood:	n/a	chr5:89317210-89317219
21	BCLAF1	chr5:89310121-89310701	GM12878	blood:	n/a	n/a
22	BHLHE40	chr5:89316917-89317377	GM12878	blood:	n/a	n/a
23	BHLHE40	chr5:89310301-89310593	GM12878	blood:	n/a	n/a
24	BHLHE40	chr5:89318607-89318623	GM12878	blood:	n/a	n/a
25	BHLHE40	chr5:89311320-89311735	GM12878	blood:	n/a	n/a
26	CEBPB	chr5:89315591-89315810	HepG2	liver:	n/a	chr5:89315691-89315702
27	CEBPB	chr5:89316811-89317480	GM12878	blood:	n/a	n/a
28	CEBPB	chr5:89347925-89348006	HepG2	liver:	n/a	chr5:89347973-89347984
29	CEBPB	chr5:89311650-89311861	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr5:89316996-89317364	GM12878	blood:	n/a	n/a
31	CHD2	chr5:89316987-89317392	GM12878	blood:	n/a	n/a
32	CHD2	chr5:89318702-89318826	GM12878	blood:	n/a	n/a
33	CHD2	chr5:89311800-89311879	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr5:89311408-89311679	GM12878	blood:	n/a	n/a
35	CREB1	chr5:89318446-89318931	GM12878	blood:	n/a	n/a
36	CREB1	chr5:89318521-89318839	GM12878	blood:	n/a	n/a
37	CTCF	chr5:89311409-89311717	GM12878	blood:	n/a	n/a
38	CTCF	chr5:89303641-89303682	GM12878	blood:	n/a	n/a
39	CTCF	chr5:89311760-89311910	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr5:89304317-89304346	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr5:89311440-89311590	GM12864	blood:	n/a	n/a
42	CTCF	chr5:89328245-89328318	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr5:89311540-89311690	GM12873	blood:	n/a	n/a
44	CTCF	chr5:89329331-89329434	LNCaP	prostate:	n/a	n/a
45	CTCF	chr5:89311680-89311830	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr5:89311680-89311830	AG04449	skin:	n/a	n/a
47	CTCF	chr5:89311700-89311850	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr5:89323970-89323999	Lung_OC	lung:	n/a	n/a
49	CTCF	chr5:89355587-89355670	GM13976	blood:	n/a	n/a
50	CTCF	chr5:89311720-89311870	HPAF	blood vessel:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:89352028-89352078	BJ	skin:	n/a
2	chr5:89352028-89352078	HCF	heart:	n/a
3	chr5:89352028-89352078	HAEpiC	amniotic membrane:	n/a
4	chr5:89311473-89311523	HNPCEpiC	eye:	n/a
5	chr5:89311473-89311523	HCM	heart:	n/a
6	chr5:89311473-89311523	SK-N-SH_RA	brain:	n/a
7	chr5:89352028-89352078	AG10803	skin:	n/a
8	chr5:89352028-89352078	MCF10A-Er-Src	breast:	n/a
9	chr5:89352028-89352078	CMK	blood:	n/a
10	chr5:89352028-89352078	SK-N-MC	brain:	n/a
11	chr5:89311473-89311523	BE2_C	brain:	n/a
12	chr5:89352028-89352078	HRPEpiC	eye:	n/a
13	chr5:89311473-89311523	Hepatocyte	liver:	n/a
14	chr5:89311473-89311523	HCT-116	colon:	n/a
15	chr5:89352028-89352078	NH-A	brain:	n/a
16	chr5:89311473-89311523	ECC-1	luminal epithelium:	n/a
17	chr5:89352028-89352078	HMEC	breast:	n/a
18	chr5:89311473-89311523	HMEC	breast:	n/a
19	chr5:89311473-89311523	AoSMC	blood vessel:	n/a
20	chr5:89311473-89311523	PANC-1	pancreas:	n/a
21	chr5:89311473-89311523	RPTEC	kidney:	n/a
22	chr5:89352028-89352078	K562	blood:	n/a
23	chr5:89352028-89352078	HCM	heart:	n/a
24	chr5:89352028-89352078	HepG2	liver:	n/a
25	chr5:89311473-89311523	HIPEpiC	eye:	n/a
26	chr5:89311473-89311523	ProgFib	skin:	n/a
27	chr5:89311473-89311523	HRPEpiC	eye:	n/a
28	chr5:89352028-89352078	SK-N-SH	brain:	n/a
29	chr5:89352028-89352078	HPAEpiC	pulmonary alveolar:	n/a
30	chr5:89352028-89352078	LNCaP	prostate:	n/a
31	chr5:89352028-89352078	Caco-2	colon:	n/a
32	chr5:89311473-89311523	Hela-S3	cervix:	n/a
33	chr5:89311473-89311523	MCF-7	breast:	n/a
34	chr5:89352028-89352078	HEK293	kidney:	embryo
35	chr5:89352028-89352078	HIPEpiC	eye:	n/a
36	chr5:89352028-89352078	HNPCEpiC	eye:	n/a
37	chr5:89352028-89352078	GM12891	blood:	n/a
38	chr5:89352028-89352078	HEEpiC	esophagus:	n/a
39	chr5:89352028-89352078	AG09319	gingival:	n/a
40	chr5:89352028-89352078	HCT-116	colon:	n/a
41	chr5:89311473-89311523	ovcar-3	ovarian:	n/a
42	chr5:89352028-89352078	SAEC	small airway:	n/a
43	chr5:89311473-89311523	AG09309	skin:	n/a
44	chr5:89311473-89311523	T-47D	breast:	n/a
45	chr5:89311473-89311523	SAEC	small airway:	n/a
46	chr5:89352028-89352078	BE2_C	brain:	n/a
47	chr5:89311473-89311523	GM12878	blood:	n/a
48	chr5:89352028-89352078	PrEC	prostate:	n/a
49	chr5:89352028-89352078	H1-hESC	embryonic stem cell:	embryo
50	chr5:89352028-89352078	GM12892	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:89307936..89309631-chr5:89313078..89316027,2	K562	blood:
2	chr15:65597139..65597859-chr5:89302420..89302940,2	Hela-S3	cervix:
3	chr5:89307936..89309631-chr5:89313078..89316027,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3660	chr5:89312458-89312478	MIMAT0018081

No data

Variant related genes	Relation type
MIR3660	TF binding region
MIR3660	CpG island

Extended variants
information (count: 1002 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1002 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115593265	chr5:89303215-89303216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138321921	chr5:89303244-89303245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188475679	chr5:89303354-89303355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149652286	chr5:89303465-89303466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544923485	chr5:89303474-89303475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565368937	chr5:89303483-89303484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528696316	chr5:89303541-89303542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572530903	chr5:89303580-89303581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377039695	chr5:89303596-89303597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537033121	chr5:89304020-89304021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369080370	chr5:89304044-89304045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547108323	chr5:89304055-89304056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181955925	chr5:89304061-89304062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535872803	chr5:89304062-89304063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143995897	chr5:89304070-89304071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145959976	chr5:89304073-89304074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35262831	chr5:89304100-89304101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56864389	chr5:89304105-89304106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550198826	chr5:89304123-89304124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187414096	chr5:89304181-89304182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572290981	chr5:89304202-89304203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192130297	chr5:89304225-89304226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181812695	chr5:89304229-89304230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186231414	chr5:89304243-89304244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372938390	chr5:89304256-89304257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567218259	chr5:89304314-89304315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200452949	chr5:89304317-89304318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78011796	chr5:89304370-89304371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543496717	chr5:89304417-89304418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563712277	chr5:89304466-89304467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540375433	chr5:89304468-89304469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552857031	chr5:89304478-89304479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532651519	chr5:89304479-89304480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148647868	chr5:89304539-89304540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559490087	chr5:89304543-89304544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528695026	chr5:89304563-89304564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547069352	chr5:89304564-89304565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561555207	chr5:89304621-89304622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567070090	chr5:89304638-89304639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567056258	chr5:89304649-89304650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529632730	chr5:89304670-89304671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549469656	chr5:89304699-89304700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377400590	chr5:89304710-89304711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569635303	chr5:89304791-89304792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190160223	chr5:89304800-89304801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558829947	chr5:89304867-89304868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527544241	chr5:89304927-89304928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565862411	chr5:89305028-89305029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534839100	chr5:89305034-89305035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572957664	chr5:89305049-89305050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89303200-89303600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:89304000-89304200	Enhancers	Aorta	Aorta
3	chr5:89304200-89311400	Weak transcription	Aorta	Aorta
4	chr5:89309400-89309600	Enhancers	GM12878-XiMat	blood
5	chr5:89309400-89313400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:89309600-89312000	Flanking Active TSS	GM12878-XiMat	blood
7	chr5:89310000-89310200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:89310200-89310600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:89310200-89310600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:89310200-89310800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:89310200-89311400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:89310200-89312400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:89310400-89310800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:89310400-89313200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:89310600-89311600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:89310600-89311600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:89310600-89312000	Enhancers	Colon Smooth Muscle	Colon
18	chr5:89310800-89311200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:89310800-89311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:89310800-89313200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:89311000-89311800	Enhancers	Rectal Smooth Muscle	rectum
22	chr5:89311000-89312200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:89311200-89311800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:89311200-89311800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:89311200-89312000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:89311200-89312000	Enhancers	NH-A	brain
27	chr5:89311200-89312000	Enhancers	Osteobl	bone
28	chr5:89311200-89312200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:89311200-89312200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:89311200-89313400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:89311200-89313600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:89311200-89313800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:89311200-89313800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:89311400-89311800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr5:89311400-89311800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr5:89311400-89311800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:89311400-89311800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:89311400-89311800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:89311400-89311800	Enhancers	Aorta	Aorta
40	chr5:89311400-89311800	Enhancers	HSMMtube	muscle
41	chr5:89311400-89311800	Enhancers	HUVEC	blood vessel
42	chr5:89311400-89312200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:89311600-89311800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:89311600-89311800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:89311600-89311800	Enhancers	HSMM	muscle
46	chr5:89311600-89312800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr5:89311800-89313000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:89311800-89313200	Weak transcription	Aorta	Aorta
49	chr5:89311800-89316200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr5:89311800-89316200	Weak transcription	Monocytes-CD14+_RO01746	blood

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