Variant report

Variant	nsv900875
Chromosome Location	chr13:90825389-90900914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:396)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr13:90825472-90825641	K562	blood:	n/a	n/a
2	ATF1	chr13:90849956-90850603	K562	blood:	n/a	n/a
3	ATF1	chr13:90839349-90840283	K562	blood:	n/a	n/a
4	ATF1	chr13:90849252-90849459	K562	blood:	n/a	n/a
5	ATF1	chr13:90862596-90862633	K562	blood:	n/a	n/a
6	ATF1	chr13:90828106-90828481	K562	blood:	n/a	n/a
7	ATF1	chr13:90838752-90838825	K562	blood:	n/a	n/a
8	ATF1	chr13:90834745-90835131	K562	blood:	n/a	n/a
9	ATF1	chr13:90846329-90846695	K562	blood:	n/a	n/a
10	BACH1	chr13:90884209-90884368	K562	blood:	n/a	n/a
11	BACH1	chr13:90858855-90859401	K562	blood:	n/a	n/a
12	BACH1	chr13:90830901-90831241	K562	blood:	n/a	n/a
13	BACH1	chr13:90900411-90900747	K562	blood:	n/a	n/a
14	BACH1	chr13:90851375-90851471	K562	blood:	n/a	n/a
15	BACH1	chr13:90854352-90854549	K562	blood:	n/a	n/a
16	BATF	chr13:90849933-90850288	GM12878	blood:	n/a	chr13:90850211-90850221
17	BHLHE40	chr13:90853562-90854662	K562	blood:	n/a	n/a
18	BHLHE40	chr13:90858651-90858998	K562	blood:	n/a	n/a
19	BHLHE40	chr13:90899928-90900047	K562	blood:	n/a	n/a
20	CCNT2	chr13:90896882-90897298	K562	blood:	n/a	n/a
21	CCNT2	chr13:90894919-90895072	K562	blood:	n/a	n/a
22	CCNT2	chr13:90828978-90829554	K562	blood:	n/a	n/a
23	CCNT2	chr13:90839516-90840215	K562	blood:	n/a	n/a
24	CCNT2	chr13:90881441-90881827	K562	blood:	n/a	n/a
25	CEBPB	chr13:90899250-90899468	K562	blood:	n/a	chr13:90899378-90899389
26	CEBPB	chr13:90828180-90828411	K562	blood:	n/a	chr13:90828272-90828283
27	CEBPB	chr13:90828225-90828409	A549	lung:	n/a	chr13:90828272-90828283
28	CEBPB	chr13:90856783-90856971	HepG2	liver:	n/a	chr13:90856833-90856844
29	CEBPB	chr13:90856757-90856903	A549	lung:	n/a	chr13:90856833-90856844
30	CEBPB	chr13:90890824-90890837	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr13:90884569-90884771	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr13:90856732-90857160	K562	blood:	n/a	chr13:90856833-90856844
33	CEBPB	chr13:90899320-90899499	A549	lung:	n/a	chr13:90899378-90899389
34	CEBPB	chr13:90828202-90828373	Hela-S3	cervix:	n/a	chr13:90828272-90828283
35	CEBPB	chr13:90828111-90828423	HepG2	liver:	n/a	chr13:90828272-90828283
36	CEBPB	chr13:90841758-90841864	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr13:90899234-90899519	HepG2	liver:	n/a	chr13:90899378-90899389
38	CTCF	chr13:90883749-90883820	GM19239	blood:	n/a	n/a
39	CTCF	chr13:90886660-90886810	HepG2	liver:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
40	CTCF	chr13:90886528-90886878	K562	blood:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
41	CTCF	chr13:90886575-90886822	GM12878	blood:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
42	CTCF	chr13:90886620-90886770	AG10803	skin:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
43	CTCF	chr13:90886653-90886776	MCF-7	breast:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
44	CTCF	chr13:90889660-90889810	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr13:90886640-90886790	HA-sp	spinal cord:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
46	CTCF	chr13:90883577-90883714	MCF-7	breast:	n/a	n/a
47	CTCF	chr13:90886620-90886770	HCPEpiC	choroid plexus:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
48	CTCF	chr13:90883590-90883860	MCF-7	breast:	n/a	n/a
49	CTCF	chr13:90883748-90883801	HepG2	liver:	n/a	n/a
50	CTCF	chr13:90883564-90883882	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:90848833..90851236-chr13:90855883..90857949,2	K562	blood:
2	chr13:90829561..90831370-chr13:90833603..90835132,2	K562	blood:
3	chr13:90855976..90857785-chr13:90859917..90862023,2	K562	blood:
4	chr13:90862129..90863023-chr5:145846043..145846583,2	MCF-7	breast:
5	chr13:90727215..90729377-chr13:90823351..90825843,2	K562	blood:
6	chr13:90840334..90842479-chr13:90849460..90851751,2	K562	blood:
7	chr13:90864203..90866392-chr13:90874475..90876963,2	K562	blood:
8	chr13:90892719..90894742-chr13:90897643..90900031,2	K562	blood:
9	chr13:90875402..90877312-chr13:90877862..90879881,2	K562	blood:
10	chr13:90825617..90827344-chr13:90829943..90831827,2	K562	blood:
11	chr13:90849736..90852202-chr13:90855952..90858103,3	K562	blood:
12	chr13:90848833..90851236-chr13:90855883..90857949,2	K562	blood:
13	chr13:90892719..90895219-chr13:90897617..90899143,2	K562	blood:
14	chr13:90840334..90842479-chr13:90849460..90851751,2	K562	blood:
15	chr13:90875402..90877312-chr13:90877862..90879881,2	K562	blood:
16	chr13:90845814..90848720-chr13:90849187..90852839,3	K562	blood:
17	chr13:90849736..90852202-chr13:90855952..90858103,3	K562	blood:
18	chr13:90820278..90822167-chr13:90827317..90829782,2	K562	blood:
19	chr13:90892719..90894742-chr13:90897643..90900031,2	K562	blood:
20	chr13:90829561..90831370-chr13:90833603..90835132,2	K562	blood:
21	chr13:90825617..90827344-chr13:90829943..90831827,2	K562	blood:
22	chr13:90892719..90895219-chr13:90897617..90899143,2	K562	blood:
23	chr12:53342744..53343286-chr13:90882139..90882645,2	Hela-S3	cervix:
24	chr13:90855976..90857785-chr13:90859917..90862023,2	K562	blood:
25	chr13:90883097..90884825-chr13:90899130..90901723,2	K562	blood:
26	chr13:90845814..90848720-chr13:90849187..90852839,3	K562	blood:
27	chr13:90864203..90866392-chr13:90874475..90876963,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-622	chr13:90883496-90883516	MIMAT0003291

No data

Variant related genes	Relation type
KRT18P27	TF binding region
MIR622	TF binding region
ENSG00000111057	chromatin interactions
ENSG00000207858	chromatin interactions
KRAS	Mature miRNA region

Extended variants
information (count: 1201 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1201 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188448227	chr13:90829600-90829601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180990413	chr13:90829610-90829611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186037533	chr13:90829611-90829612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368911634	chr13:90829668-90829669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192115522	chr13:90829688-90829689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570772481	chr13:90829713-90829714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531603777	chr13:90829729-90829730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547199082	chr13:90829804-90829805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549763458	chr13:90829852-90829853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144737357	chr13:90829864-90829865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560331366	chr13:90829880-90829881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535562859	chr13:90829933-90829934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553963063	chr13:90829957-90829958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565759110	chr13:90829962-90829963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184052743	chr13:90830008-90830009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558092687	chr13:90830030-90830031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539359305	chr13:90830041-90830042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576357082	chr13:90830064-90830065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73597491	chr13:90830101-90830102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569261596	chr13:90830110-90830111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186297316	chr13:90830132-90830133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117224808	chr13:90832623-90832624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372189013	chr13:90832625-90832626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34660537	chr13:90832638-90832639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112726621	chr13:90832671-90832672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372992164	chr13:90832675-90832676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376222704	chr13:90832677-90832678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139485307	chr13:90832714-90832715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550157637	chr13:90832771-90832772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375870547	chr13:90832795-90832796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568650948	chr13:90832822-90832823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536330563	chr13:90832844-90832845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181315381	chr13:90832849-90832850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567867294	chr13:90832927-90832928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534869283	chr13:90832989-90832990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147798926	chr13:90833029-90833030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141201727	chr13:90833082-90833083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539078798	chr13:90833100-90833101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116488311	chr13:90833130-90833131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536396476	chr13:90833181-90833182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377512416	chr13:90833185-90833186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552747514	chr13:90833189-90833190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147624242	chr13:90833303-90833304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543132484	chr13:90833309-90833310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184550474	chr13:90833344-90833345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371385753	chr13:90833394-90833395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573003690	chr13:90833418-90833419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573003647	chr13:90833459-90833460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189487029	chr13:90833557-90833558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564884303	chr13:90833688-90833689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90829600-90830200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:90832600-90832800	Weak transcription	Pancreas	Pancrea
3	chr13:90832800-90833000	Enhancers	Pancreas	Pancrea
4	chr13:90833000-90842000	Weak transcription	Pancreas	Pancrea
5	chr13:90837800-90838200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:90839200-90840400	Enhancers	Fetal Brain Male	brain
7	chr13:90839400-90840400	Enhancers	Fetal Heart	heart
8	chr13:90840400-90840800	Weak transcription	Fetal Brain Male	brain
9	chr13:90840800-90841200	Enhancers	Fetal Brain Male	brain
10	chr13:90842000-90842200	ZNF genes & repeats	Pancreas	Pancrea
11	chr13:90842000-90842200	ZNF genes & repeats	Right Atrium	heart
12	chr13:90842200-90846400	Weak transcription	Right Atrium	heart
13	chr13:90849600-90850600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:90850600-90853000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:90853000-90854400	Enhancers	Fetal Kidney	kidney
16	chr13:90853000-90855600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:90853400-90853800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:90853400-90853800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:90853400-90855200	Enhancers	Fetal Heart	heart
20	chr13:90853600-90854000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:90853600-90854000	Enhancers	Fetal Lung	lung
22	chr13:90853600-90854400	Enhancers	Left Ventricle	heart
23	chr13:90853600-90854400	Enhancers	Right Atrium	heart
24	chr13:90853600-90854600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:90853600-90854600	Enhancers	Colon Smooth Muscle	Colon
26	chr13:90853800-90854000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr13:90853800-90854400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:90854000-90854200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:90854000-90857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:90854200-90854400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr13:90854400-90854800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:90854400-90854800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr13:90854400-90856600	Weak transcription	Right Atrium	heart
34	chr13:90854600-90857000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:90857000-90857800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:90857000-90857800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:90857000-90858200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:90857400-90858400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr13:90876600-90877200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:90882600-90882800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr13:90884400-90885000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr13:90884600-90885000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:90884600-90885000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr13:90884600-90885000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr13:90890400-90891000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:90890600-90891000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr13:90890600-90891200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr13:90890600-90891200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr13:90890600-90891200	Enhancers	HMEC	breast
50	chr13:90890600-90891400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links