Variant report

Variant	nsv1053206
Chromosome Location	chr13:90464520-90521109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:250)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:250 , 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	chr13:90520785-90520820	K562	blood:	n/a	n/a
2	ARID3A	chr13:90512718-90512791	K562	blood:	n/a	n/a
3	ARID3A	chr13:90497424-90497670	K562	blood:	n/a	n/a
4	ATF1	chr13:90510751-90511105	K562	blood:	n/a	n/a
5	ATF1	chr13:90466783-90467103	K562	blood:	n/a	n/a
6	ATF1	chr13:90504797-90505152	K562	blood:	n/a	n/a
7	ATF1	chr13:90483482-90484025	K562	blood:	n/a	n/a
8	ATF1	chr13:90463731-90464784	K562	blood:	n/a	n/a
9	ATF1	chr13:90468064-90468577	K562	blood:	n/a	n/a
10	ATF1	chr13:90477390-90477952	K562	blood:	n/a	n/a
11	BACH1	chr13:90493756-90494221	K562	blood:	n/a	n/a
12	BACH1	chr13:90488380-90488753	K562	blood:	n/a	n/a
13	BACH1	chr13:90514969-90515132	K562	blood:	n/a	n/a
14	BHLHE40	chr13:90498120-90498598	K562	blood:	n/a	n/a
15	BHLHE40	chr13:90511668-90511802	K562	blood:	n/a	n/a
16	BHLHE40	chr13:90514903-90515151	K562	blood:	n/a	n/a
17	BHLHE40	chr13:90472685-90473042	K562	blood:	n/a	n/a
18	CCNT2	chr13:90479195-90479749	K562	blood:	n/a	n/a
19	CCNT2	chr13:90497451-90497508	K562	blood:	n/a	n/a
20	CEBPB	chr13:90499674-90500140	A549	lung:	n/a	chr13:90499735-90499748
21	CEBPB	chr13:90502652-90502934	K562	blood:	n/a	chr13:90502835-90502846
22	CEBPB	chr13:90499646-90500007	IMR90	lung:	n/a	chr13:90499735-90499748 chr13:90499666-90499677
23	CEBPB	chr13:90498398-90498696	IMR90	lung:	n/a	chr13:90498542-90498559
24	CEBPB	chr13:90493375-90493381	K562	blood:	n/a	n/a
25	CEBPB	chr13:90505345-90505634	K562	blood:	n/a	chr13:90505353-90505366 chr13:90505514-90505525 chr13:90505350-90505367
26	CEBPB	chr13:90498414-90498711	A549	lung:	n/a	chr13:90498542-90498559
27	CEBPB	chr13:90480867-90481108	HepG2	liver:	n/a	chr13:90480973-90480984 chr13:90480974-90480985 chr13:90480973-90480984
28	CEBPB	chr13:90502707-90502952	HepG2	liver:	n/a	chr13:90502835-90502846
29	CEBPB	chr13:90499693-90499989	HepG2	liver:	n/a	chr13:90499735-90499748
30	CEBPB	chr13:90502682-90502935	A549	lung:	n/a	chr13:90502835-90502846
31	CHD2	chr13:90493411-90493459	K562	blood:	n/a	n/a
32	CTCF	chr13:90489380-90489530	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr13:90499260-90499410	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr13:90520913-90520919	K562	blood:	n/a	n/a
35	CTCF	chr13:90493287-90493329	K562	blood:	n/a	n/a
36	CTCF	chr13:90515418-90515421	GM10248	blood:	n/a	n/a
37	CTCF	chr13:90498460-90498610	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr13:90487535-90487618	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr13:90515000-90515224	K562	blood:	n/a	n/a
40	CTCF	chr13:90485180-90485241	GM10248	blood:	n/a	n/a
41	CTCF	chr13:90469786-90469842	GM20000	blood:	n/a	n/a
42	CTCF	chr13:90515908-90516091	K562	blood:	n/a	n/a
43	CUX1	chr13:90495848-90496230	K562	blood:	n/a	n/a
44	CUX1	chr13:90494456-90494754	K562	blood:	n/a	n/a
45	E2F4	chr13:90479330-90479593	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr13:90486471-90486643	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr13:90499664-90499665	MCF10A-Er-Src	breast:	n/a	n/a
48	EBF1	chr13:90499759-90499791	GM12878	blood:	n/a	n/a
49	EBF1	chr13:90504895-90505172	GM12878	blood:	n/a	n/a
50	ELK1	chr13:90466180-90466193	K562	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:90513066..90514981-chr13:90520544..90522949,2	K562	blood:
2	chr13:90458920..90462227-chr13:90462309..90464800,3	K562	blood:
3	chr13:90476201..90479176-chr13:90479802..90482619,4	K562	blood:
4	chr13:90497383..90499732-chr13:90531093..90533343,2	K562	blood:
5	chr13:90462886..90465501-chr13:90466757..90468821,2	K562	blood:
6	chr13:90505837..90509625-chr13:90510722..90514871,5	K562	blood:
7	chr13:90513066..90514981-chr13:90520544..90522949,2	K562	blood:
8	chr13:90494528..90497292-chr13:90501979..90504191,2	K562	blood:
9	chr13:90520551..90523101-chr13:90523541..90526179,2	K562	blood:
10	chr13:90512365..90514845-chr13:90515836..90518602,3	K562	blood:
11	chr13:90503021..90505248-chr13:90522528..90525027,2	K562	blood:
12	chr13:90494528..90497292-chr13:90501979..90504191,2	K562	blood:
13	chr13:90451472..90453159-chr13:90467765..90470147,2	K562	blood:
14	chr13:90461092..90463944-chr13:90499339..90502245,2	K562	blood:
15	chr13:90512365..90514845-chr13:90515836..90519409,3	K562	blood:
16	chr13:90497518..90499702-chr13:90509556..90511719,2	K562	blood:
17	chr13:90517201..90517899-chr4:180957059..180957638,2	MCF-7	breast:
18	chr13:90497518..90499702-chr13:90509556..90511719,2	K562	blood:
19	chr13:90471832..90475214-chr13:90475498..90478937,3	K562	blood:
20	chr13:90476201..90479176-chr13:90479802..90482619,4	K562	blood:
21	chr13:90511605..90514028-chr13:90549100..90551730,2	K562	blood:
22	chr13:90512365..90514845-chr13:90515836..90519409,3	K562	blood:
23	chr13:90505837..90509625-chr13:90510722..90514871,5	K562	blood:
24	chr13:90482310..90483904-chr13:90487174..90489682,2	K562	blood:
25	chr13:90471832..90475214-chr13:90475498..90478937,3	K562	blood:
26	chr13:90462886..90465501-chr13:90466757..90468821,2	K562	blood:
27	chr13:90512365..90514845-chr13:90515836..90518602,3	K562	blood:

No data

Variant related genes	Relation type
RPL7L1P1	TF binding region
ENSG00000200733	TF binding region
ENSG00000200733	chromatin interactions

Extended variants
information (count: 864 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1932302	chr13:90464520-90464521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139780317	chr13:90464586-90464587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559984312	chr13:90464626-90464627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527418709	chr13:90464713-90464714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73582648	chr13:90464715-90464716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78734755	chr13:90464742-90464743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185141211	chr13:90464748-90464749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9522741	chr13:90464779-90464780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550818849	chr13:90464903-90464904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529137685	chr13:90464906-90464907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569209747	chr13:90464907-90464908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536241355	chr13:90464937-90464938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554988662	chr13:90465007-90465008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573240003	chr13:90465019-90465020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190092997	chr13:90465054-90465055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181213314	chr13:90465062-90465063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73582650	chr13:90465063-90465064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577073124	chr13:90465078-90465079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544423802	chr13:90465104-90465105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142574980	chr13:90465113-90465114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74109765	chr13:90465136-90465137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9588765	chr13:90465159-90465160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570400108	chr13:90465176-90465177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185356394	chr13:90465185-90465186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552213066	chr13:90465260-90465261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140836146	chr13:90465261-90465262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369309637	chr13:90465263-90465264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9515634	chr13:90465272-90465273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550808189	chr13:90465321-90465322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569198090	chr13:90465328-90465329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144457696	chr13:90465329-90465330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548266675	chr13:90465346-90465347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535755805	chr13:90465356-90465357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566824502	chr13:90465371-90465372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533951308	chr13:90465378-90465379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147824013	chr13:90465437-90465438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571005664	chr13:90465451-90465452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538030900	chr13:90465455-90465456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556434297	chr13:90465505-90465506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375455763	chr13:90465547-90465548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574765907	chr13:90465554-90465555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188220144	chr13:90465566-90465567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542082490	chr13:90465579-90465580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553795445	chr13:90465600-90465601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571964323	chr13:90465630-90465631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9588766	chr13:90465638-90465639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs180785943	chr13:90465652-90465653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531344381	chr13:90465657-90465658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544383645	chr13:90465659-90465660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551464210	chr13:90465687-90465688	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90464400-90466000	Enhancers	HUVEC	blood vessel
2	chr13:90465200-90465800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:90465800-90466000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
4	chr13:90468200-90468600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:90474600-90475000	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:90474600-90475200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:90474800-90475000	Enhancers	A549	lung
8	chr13:90475000-90479800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:90475200-90479800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:90479400-90480000	Enhancers	Brain Angular Gyrus	brain
11	chr13:90479400-90480400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr13:90479800-90480000	Active TSS	Brain Anterior Caudate	brain
13	chr13:90479800-90480200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:90479800-90480200	Enhancers	Brain Cingulate Gyrus	brain
15	chr13:90479800-90480200	Enhancers	Brain Hippocampus Middle	brain
16	chr13:90479800-90480400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:90479800-90480400	Enhancers	Brain Substantia Nigra	brain
18	chr13:90479800-90481600	Enhancers	Adipose Nuclei	Adipose
19	chr13:90480000-90480200	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr13:90480000-90480200	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr13:90480000-90480400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:90480000-90480400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:90480000-90480400	Enhancers	Fetal Lung	lung
24	chr13:90480200-90484600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:90480400-90482600	Weak transcription	Fetal Lung	lung
26	chr13:90480400-90484600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:90482600-90483200	Enhancers	Fetal Lung	lung
28	chr13:90483200-90485200	Weak transcription	Fetal Lung	lung
29	chr13:90483800-90484000	Enhancers	A549	lung
30	chr13:90484000-90485000	Weak transcription	A549	lung
31	chr13:90484600-90485200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:90484600-90485400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:90485000-90485400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:90485000-90486000	Enhancers	A549	lung
35	chr13:90485200-90485600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr13:90485200-90485800	Enhancers	Fetal Lung	lung
37	chr13:90492000-90492400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:90492000-90492400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:90498200-90500000	Enhancers	Fetal Lung	lung
40	chr13:90499200-90500000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr13:90508600-90509000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:90514600-90515400	Enhancers	HMEC	breast
43	chr13:90515000-90515400	Enhancers	HUVEC	blood vessel
44	chr13:90515400-90516400	Weak transcription	HUVEC	blood vessel
45	chr13:90516400-90518200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links