Variant report

Variant	nsv893701
Chromosome Location	chr9:110650482-110709587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:215)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:215 , 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	ATF1	chr9:110707866-110708044	K562	blood:	n/a	n/a
2	ATF3	chr9:110705274-110705405	K562	blood:	n/a	n/a
3	BHLHE40	chr9:110705222-110705534	K562	blood:	n/a	n/a
4	CEBPB	chr9:110653192-110653349	K562	blood:	n/a	n/a
5	CEBPB	chr9:110651688-110651962	HepG2	liver:	n/a	chr9:110651807-110651818
6	CEBPB	chr9:110651703-110651927	IMR90	lung:	n/a	chr9:110651807-110651818
7	CEBPB	chr9:110657130-110657468	IMR90	lung:	n/a	n/a
8	CEBPB	chr9:110694411-110694672	IMR90	lung:	n/a	n/a
9	CEBPB	chr9:110651690-110651934	A549	lung:	n/a	chr9:110651807-110651818
10	CEBPB	chr9:110709109-110709385	MCF-7	breast:	n/a	n/a
11	CEBPB	chr9:110651784-110651818	Hela-S3	cervix:	n/a	chr9:110651807-110651818
12	CEBPB	chr9:110691840-110691867	IMR90	lung:	n/a	n/a
13	CEBPB	chr9:110657902-110658321	IMR90	lung:	n/a	n/a
14	CEBPB	chr9:110708159-110708172	HepG2	liver:	n/a	n/a
15	CEBPB	chr9:110707842-110708178	K562	blood:	n/a	n/a
16	CEBPB	chr9:110709182-110709258	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr9:110691242-110691351	HepG2	liver:	n/a	n/a
18	CHD2	chr9:110665944-110666005	HepG2	liver:	n/a	n/a
19	CTCF	chr9:110707960-110708110	NHEK	skin:	n/a	n/a
20	CTCF	chr9:110657860-110658010	NHLF	lung:	n/a	n/a
21	CTCF	chr9:110707829-110708092	K562	blood:	n/a	n/a
22	CTCF	chr9:110705548-110705559	GM13976	blood:	n/a	n/a
23	CTCF	chr9:110662040-110662190	GM12869	blood:	n/a	n/a
24	CTCF	chr9:110707880-110708030	HCT-116	colon:	n/a	n/a
25	CTCF	chr9:110657820-110657970	BJ	skin:	n/a	n/a
26	CTCF	chr9:110657800-110657950	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr9:110707900-110708050	MCF-7	breast:	n/a	n/a
28	CTCF	chr9:110657960-110658110	HVMF	connective:	n/a	n/a
29	CTCF	chr9:110707880-110708030	HMF	breast:	n/a	n/a
30	CTCF	chr9:110657840-110657990	HPF	lung:	n/a	n/a
31	CTCF	chr9:110680680-110680830	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr9:110657920-110658070	HCM	heart:	n/a	n/a
33	CTCF	chr9:110658020-110658170	HVMF	connective:	n/a	n/a
34	CTCF	chr9:110708000-110708150	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr9:110657840-110657990	AG04450	lung:	n/a	n/a
36	CTCF	chr9:110707880-110708030	NHEK	skin:	n/a	n/a
37	CTCF	chr9:110657860-110658010	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr9:110680760-110680910	NHLF	lung:	n/a	n/a
39	CTCF	chr9:110657780-110657930	BJ	skin:	n/a	n/a
40	CTCF	chr9:110657940-110658090	HPF	lung:	n/a	n/a
41	CTCF	chr9:110707880-110708030	MCF-7	breast:	n/a	n/a
42	CTCF	chr9:110707975-110708047	MCF-7	breast:	n/a	n/a
43	CTCF	chr9:110708000-110708150	HepG2	liver:	n/a	n/a
44	CTCF	chr9:110654779-110654825	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr9:110707920-110708070	HMEC	breast:	n/a	n/a
46	CTCF	chr9:110657860-110658010	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr9:110657920-110658070	AG09319	gingival:	n/a	n/a
48	CTCF	chr9:110669914-110669983	Fibrobl	skin:	n/a	n/a
49	CTCF	chr9:110691940-110692090	A549	lung:	n/a	n/a
50	CTCF	chr9:110707860-110708010	AG09319	gingival:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:110251858..110254547-chr9:110657467..110659406,2	MCF-7	breast:
2	chr9:110652589..110655331-chr9:110657909..110660520,2	K562	blood:
3	chr9:110701534..110704025-chr9:110707903..110710423,2	MCF-7	breast:
4	chr9:110697341..110700302-chr9:110702105..110704543,2	MCF-7	breast:
5	chr9:110249839..110252695-chr9:110688068..110690934,2	MCF-7	breast:
6	chr9:110693655..110697978-chr9:110698723..110702635,5	MCF-7	breast:
7	chr9:110693655..110697978-chr9:110698723..110702635,5	MCF-7	breast:
8	chr9:110666092..110668154-chr9:110669795..110672142,2	K562	blood:
9	chr9:110678742..110681468-chr9:110687073..110689205,2	MCF-7	breast:
10	chr9:110250543..110252751-chr9:110679811..110682392,3	MCF-7	breast:
11	chr9:110250588..110253212-chr9:110699755..110702575,2	MCF-7	breast:
12	chr9:110656736..110659365-chr9:110662129..110664911,2	K562	blood:
13	chr9:110681238..110683954-chr9:110684043..110685943,2	MCF-7	breast:
14	chr9:110251271..110253377-chr9:110708368..110711924,3	MCF-7	breast:
15	chr9:110645920..110647736-chr9:110648622..110651192,2	MCF-7	breast:
16	chr9:110701534..110704025-chr9:110707903..110710423,2	MCF-7	breast:
17	chr9:110249367..110251049-chr9:110705372..110707757,3	MCF-7	breast:
18	chr9:110701124..110702894-chr9:110705619..110707761,2	K562	blood:
19	chr9:110666092..110668154-chr9:110669795..110672142,2	K562	blood:
20	chr9:110701124..110702894-chr9:110705619..110707761,2	K562	blood:
21	chr9:110656736..110659365-chr9:110662129..110664911,2	K562	blood:
22	chr9:110249432..110253525-chr9:110706517..110712441,6	MCF-7	breast:
23	chr9:110697341..110700302-chr9:110702105..110704543,2	MCF-7	breast:
24	chr9:110652589..110655331-chr9:110657909..110660520,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP293	TF binding region
ENSG00000136826	chromatin interactions
ENSG00000222459	chromatin interactions

Extended variants
information (count: 2532 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2532 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13289749	chr9:110650482-110650483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545335473	chr9:110650592-110650593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10979084	chr9:110650605-110650606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528215797	chr9:110650611-110650612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540424115	chr9:110650630-110650631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199683387	chr9:110650655-110650656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565113561	chr9:110650679-110650680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186105885	chr9:110650688-110650689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12336725	chr9:110650689-110650690	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs13288938	chr9:110650694-110650695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530798677	chr9:110650720-110650721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549388737	chr9:110650744-110650745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529373320	chr9:110650755-110650756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12336666	chr9:110650770-110650771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140166064	chr9:110650771-110650772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190091044	chr9:110650772-110650773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571510182	chr9:110650791-110650792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150041130	chr9:110650810-110650811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12345852	chr9:110650815-110650816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533189605	chr9:110650826-110650827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575926288	chr9:110650838-110650839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542235395	chr9:110650869-110650870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149061565	chr9:110650874-110650875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368001363	chr9:110650875-110650876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12336732	chr9:110650902-110650903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565022887	chr9:110650921-110650922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111455030	chr9:110650945-110650946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185988264	chr9:110650947-110650948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536745192	chr9:110650999-110651000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562621489	chr9:110651010-110651011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530052951	chr9:110651020-110651021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549100170	chr9:110651061-110651062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567661195	chr9:110651160-110651161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200540292	chr9:110651268-110651269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369905841	chr9:110651332-110651333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570063531	chr9:110651334-110651335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138145870	chr9:110651340-110651341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546711259	chr9:110651466-110651467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571473583	chr9:110651481-110651482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538831920	chr9:110651484-110651485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557558372	chr9:110651493-110651494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190554496	chr9:110651537-110651538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536991102	chr9:110651594-110651595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146692330	chr9:110651624-110651625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10979085	chr9:110651637-110651638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572876933	chr9:110651765-110651766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533841479	chr9:110651774-110651775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555071133	chr9:110651784-110651785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372011857	chr9:110651789-110651790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79391214	chr9:110651796-110651797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110635800-110656800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:110644400-110651000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:110644800-110658800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:110646200-110651000	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:110646400-110651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:110646800-110652600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:110649200-110651000	Weak transcription	Right Atrium	heart
8	chr9:110649200-110657000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:110649400-110651000	Weak transcription	Ovary	ovary
10	chr9:110649800-110650800	Weak transcription	Adipose Nuclei	Adipose
11	chr9:110649800-110651000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:110650200-110650600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:110650600-110652200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:110650800-110651800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:110650800-110651800	Enhancers	Adipose Nuclei	Adipose
16	chr9:110651000-110651400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:110651000-110651600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:110651000-110651600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr9:110651000-110651600	Enhancers	Fetal Lung	lung
20	chr9:110651000-110651600	Enhancers	Fetal Muscle Leg	muscle
21	chr9:110651000-110651600	Enhancers	Right Atrium	heart
22	chr9:110651000-110651600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr9:110651000-110651600	Enhancers	NHDF-Ad	bronchial
24	chr9:110651000-110651800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:110651000-110651800	Enhancers	Ovary	ovary
26	chr9:110651000-110652000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr9:110651000-110652200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:110651000-110652200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr9:110651200-110651600	Enhancers	Aorta	Aorta
30	chr9:110651200-110651600	Enhancers	Fetal Stomach	stomach
31	chr9:110651400-110653200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:110651600-110656800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:110651600-110656800	Weak transcription	Right Atrium	heart
34	chr9:110652200-110657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:110653200-110654400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:110653400-110653800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:110653800-110656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:110654400-110656200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:110655000-110655400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:110656200-110657400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:110656200-110659400	Enhancers	Fetal Stomach	stomach
42	chr9:110656600-110657600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr9:110656600-110658800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:110656600-110659200	Enhancers	Rectal Smooth Muscle	rectum
45	chr9:110656600-110659400	Enhancers	Fetal Muscle Leg	muscle
46	chr9:110656800-110657000	Enhancers	Fetal Intestine Small	intestine
47	chr9:110656800-110657000	Enhancers	Fetal Lung	lung
48	chr9:110656800-110657000	Enhancers	Stomach Smooth Muscle	stomach
49	chr9:110656800-110657000	Enhancers	NHLF	lung
50	chr9:110656800-110657200	Enhancers	Fetal Muscle Trunk	muscle

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