Variant report

Variant	esv3380008
Chromosome Location	chr9:14573378-14615933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:14585524-14586203	GM12878	blood:	n/a	n/a
2	ATF2	chr9:14585562-14586344	GM12878	blood:	n/a	n/a
3	BACH1	chr9:14573620-14573628	K562	blood:	n/a	n/a
4	BATF	chr9:14585675-14586118	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:14585726-14586068	GM12878	blood:	n/a	chr9:14585907-14585916
6	BCL11A	chr9:14585612-14586175	GM12878	blood:	n/a	chr9:14585907-14585916
7	BCL3	chr9:14585642-14586081	GM12878	blood:	n/a	chr9:14585907-14585916
8	BCLAF1	chr9:14585603-14586186	GM12878	blood:	n/a	chr9:14585907-14585916
9	BHLHE40	chr9:14585516-14586154	GM12878	blood:	n/a	n/a
10	CBX3	chr9:14578016-14578324	K562	blood:	n/a	n/a
11	CBX3	chr9:14578017-14578336	K562	blood:	n/a	n/a
12	CBX3	chr9:14593377-14593719	K562	blood:	n/a	n/a
13	CEBPB	chr9:14593410-14593662	K562	blood:	n/a	n/a
14	CEBPB	chr9:14593561-14593669	HepG2	liver:	n/a	n/a
15	CTCF	chr9:14576934-14577192	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr9:14577123-14577130	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr9:14576977-14577120	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr9:14598797-14598872	Fibrobl	skin:	n/a	n/a
19	CTCF	chr9:14576980-14577130	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr9:14577013-14577064	HepG2	liver:	n/a	n/a
21	CUX1	chr9:14593449-14593521	K562	blood:	n/a	n/a
22	EBF1	chr9:14585607-14586248	GM12878	blood:	n/a	n/a
23	EBF1	chr9:14584879-14584881	GM12878	blood:	n/a	n/a
24	EBF1	chr9:14585574-14586228	GM12878	blood:	n/a	n/a
25	EBF1	chr9:14585419-14586411	GM12878	blood:	n/a	n/a
26	EP300	chr9:14586390-14586433	GM12878	blood:	n/a	n/a
27	EP300	chr9:14585615-14586548	GM12878	blood:	n/a	chr9:14586367-14586381 chr9:14585891-14585905 chr9:14585895-14585904
28	EP300	chr9:14585697-14586123	GM12878	blood:	n/a	chr9:14585891-14585905 chr9:14585895-14585904
29	EP300	chr9:14585695-14586122	GM12878	blood:	n/a	chr9:14585891-14585905 chr9:14585895-14585904
30	EP300	chr9:14593386-14593668	K562	blood:	n/a	chr9:14593561-14593568
31	FAM48A	chr9:14587284-14587479	GM12878	blood:	n/a	n/a
32	FOXA2	chr9:14593469-14593711	HepG2	liver:	n/a	n/a
33	FOXM1	chr9:14585505-14586220	GM12878	blood:	n/a	n/a
34	FOXM1	chr9:14585606-14586240	GM12878	blood:	n/a	n/a
35	GATA2	chr9:14576117-14576724	HUVEC	blood vessel:	n/a	n/a
36	GATA3	chr9:14576412-14576749	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr9:14584399-14584946	MCF-7	breast:	n/a	n/a
38	GATA3	chr9:14611951-14612043	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr9:14584477-14584899	MCF-7	breast:	n/a	n/a
40	IKZF1	chr9:14585640-14586116	GM12878	blood:	n/a	n/a
41	IRF1	chr9:14581102-14581153	K562	blood:	n/a	n/a
42	IRF4	chr9:14585611-14586160	GM12878	blood:	n/a	n/a
43	IRF4	chr9:14585557-14586191	GM12878	blood:	n/a	n/a
44	JUND	chr9:14593409-14593677	K562	blood:	n/a	chr9:14593513-14593521
45	KAP1	chr9:14577924-14578354	K562	blood:	n/a	n/a
46	MAFF	chr9:14609040-14609253	HepG2	liver:	n/a	chr9:14609156-14609174
47	MAFF	chr9:14591522-14591725	HepG2	liver:	n/a	chr9:14591607-14591625
48	MAFK	chr9:14609030-14609301	HepG2	liver:	n/a	n/a
49	MAFK	chr9:14591442-14591786	HepG2	liver:	n/a	chr9:14591608-14591623
50	MAFK	chr9:14593587-14593598	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14607657..14609554-chr9:14615392..14617575,2	K562	blood:
2	chr9:14594819..14596399-chr9:14599180..14601861,2	K562	blood:
3	chr9:14594419..14596910-chr9:14651251..14653446,2	K562	blood:
4	chr9:14607927..14609572-chr9:14611159..14613571,2	MCF-7	breast:
5	chr9:14607657..14609554-chr9:14615392..14617575,2	K562	blood:
6	chr9:14607927..14609572-chr9:14611159..14613571,2	MCF-7	breast:
7	chr9:14594819..14596399-chr9:14599180..14601861,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf146-7	chr9:14588065-14588629	NONHSAT130249
2	lnc-C9orf146-7	chr9:14588795-14589277	NONHSAT130249
3	lnc-ZDHHC21-4	chr9:14586767-14587324	ENSG00000273399.1
4	lnc-ZDHHC21-1	chr9:14611070-14614754	NONHSAT130252
5	lnc-C9orf146-7	chr9:14586764-14587315	NONHSAT130249
6	lnc-ZDHHC21-3	chr9:14588795-14590063	ENSG00000272871.1
7	lnc-ZDHHC21-2	chr9:14606167-14606546	NONHSAT130251
8	lnc-C9orf146-8	chr9:14593575-14594198	NONHSAT130250
9	lnc-ZDHHC21-2	chr9:14609848-14609996	NONHSAT130251

No data

Variant related genes	Relation type
ENSG00000229029	TF binding region
ENSG00000272871	TF binding region
ENSG00000273399	TF binding region

Extended variants
information (count: 2054 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2054 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192111508	chr9:14574411-14574412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79241134	chr9:14574415-14574416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113860904	chr9:14574424-14574425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369180642	chr9:14574425-14574426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555551883	chr9:14574442-14574443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551769839	chr9:14574475-14574476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377076838	chr9:14574482-14574483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12344415	chr9:14574488-14574489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535053914	chr9:14574489-14574490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558164089	chr9:14574573-14574574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76371939	chr9:14574615-14574616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184056622	chr9:14574628-14574629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188204539	chr9:14574712-14574713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529454722	chr9:14574725-14574726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191935725	chr9:14574741-14574742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549213949	chr9:14574746-14574747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531619936	chr9:14574767-14574768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559215682	chr9:14574871-14574872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141441261	chr9:14574893-14574894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368249557	chr9:14574909-14574910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78829979	chr9:14574931-14574932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564528697	chr9:14574935-14574936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533455139	chr9:14574937-14574938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572728200	chr9:14574964-14574965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73642295	chr9:14574965-14574966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570252582	chr9:14574993-14574994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59753930	chr9:14575001-14575002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59389351	chr9:14575005-14575006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71321997	chr9:14575010-14575011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60525632	chr9:14575011-14575012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10961588	chr9:14575015-14575016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4740580	chr9:14575019-14575020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs55779487	chr9:14575024-14575025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144557973	chr9:14575025-14575026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201353303	chr9:14575026-14575027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200467312	chr9:14575030-14575031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529433150	chr9:14575036-14575037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201413459	chr9:14575050-14575051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551797143	chr9:14575121-14575122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566207928	chr9:14575166-14575167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182431784	chr9:14575192-14575193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558225809	chr9:14575241-14575242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150825558	chr9:14575244-14575245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10961589	chr9:14575254-14575255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545319803	chr9:14575303-14575304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111546546	chr9:14575397-14575398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139285037	chr9:14575399-14575400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187108162	chr9:14575401-14575402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552744671	chr9:14575409-14575410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539643941	chr9:14575413-14575414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14574400-14575200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:14575200-14577400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:14575400-14582000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:14575800-14577000	Enhancers	HUVEC	blood vessel
5	chr9:14577000-14577200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:14577000-14577600	Enhancers	Pancreas	Pancrea
7	chr9:14577200-14577400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:14577400-14577600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:14577400-14597200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:14577600-14596200	Weak transcription	Pancreas	Pancrea
11	chr9:14582000-14582400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:14582400-14596200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:14584400-14584800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr9:14584800-14585200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr9:14585200-14586200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr9:14585200-14587200	Enhancers	GM12878-XiMat	blood
17	chr9:14585200-14589000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:14585400-14586200	Enhancers	Primary B cells from peripheral blood	blood
19	chr9:14585400-14586200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:14585400-14586200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr9:14585400-14586400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr9:14585400-14586400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr9:14585400-14586400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:14585400-14586800	Enhancers	Primary T cells from cord blood	blood
25	chr9:14585600-14586000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr9:14585600-14586000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr9:14585600-14586000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr9:14585600-14586400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:14585800-14586000	Enhancers	Lung	lung
30	chr9:14585800-14586200	Enhancers	Dnd41	blood
31	chr9:14585800-14586400	Enhancers	Brain Germinal Matrix	brain
32	chr9:14585800-14586800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr9:14585800-14598000	Weak transcription	Right Ventricle	heart
34	chr9:14586000-14586200	Enhancers	Fetal Brain Female	brain
35	chr9:14586000-14592000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:14586000-14596200	Weak transcription	Lung	lung
37	chr9:14586000-14597000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr9:14586200-14595200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr9:14586400-14586600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:14586400-14587800	Weak transcription	Aorta	Aorta
41	chr9:14586400-14595800	Weak transcription	Brain Germinal Matrix	brain
42	chr9:14586600-14595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:14586800-14587000	Enhancers	Fetal Brain Female	brain
44	chr9:14586800-14593400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr9:14586800-14629800	Weak transcription	Primary T cells from cord blood	blood
46	chr9:14587200-14591600	Weak transcription	GM12878-XiMat	blood
47	chr9:14587400-14595800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr9:14587600-14595600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:14587600-14596200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr9:14587600-14596200	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links