Variant report

Variant	nsv892594
Chromosome Location	chr9:13970372-14005286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:13971110-13971413	A549	lung:	n/a	chr9:13971264-13971275
2	CEBPB	chr9:13979497-13980000	Hela-S3	cervix:	n/a	chr9:13979716-13979729 chr9:13979674-13979685 chr9:13979685-13979696
3	CEBPB	chr9:13979503-13979794	MCF-7	breast:	n/a	chr9:13979716-13979729 chr9:13979674-13979685 chr9:13979685-13979696
4	CEBPB	chr9:13979530-13979836	HepG2	liver:	n/a	chr9:13979716-13979729 chr9:13979674-13979685 chr9:13979685-13979696
5	CEBPB	chr9:13992090-13992667	Hela-S3	cervix:	n/a	chr9:13992362-13992373 chr9:13992360-13992373
6	CEBPB	chr9:13971099-13971348	HepG2	liver:	n/a	chr9:13971264-13971275
7	CEBPB	chr9:13979521-13979870	A549	lung:	n/a	chr9:13979716-13979729 chr9:13979674-13979685 chr9:13979685-13979696
8	CEBPB	chr9:13971162-13971362	K562	blood:	n/a	chr9:13971264-13971275
9	CTCF	chr9:13984566-13984697	GM10248	blood:	n/a	n/a
10	CTCF	chr9:13984545-13984700	Kidney_OC	kidney:	n/a	n/a
11	EP300	chr9:13969995-13970394	SK-N-SH_RA	brain:	n/a	chr9:13970379-13970393
12	EP300	chr9:13992183-13992596	Hela-S3	cervix:	n/a	chr9:13992273-13992287 chr9:13992433-13992447
13	EP300	chr9:13975450-13976174	SK-N-SH	brain:	n/a	n/a
14	EP300	chr9:13969947-13970433	SK-N-SH_RA	brain:	n/a	chr9:13970379-13970393
15	EP300	chr9:13979656-13979854	Hela-S3	cervix:	n/a	chr9:13979675-13979689
16	EP300	chr9:13993591-13994195	ECC-1	luminal epithelium:	n/a	chr9:13994157-13994165
17	FOS	chr9:13992324-13992340	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr9:13979346-13979565	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr9:13979240-13979782	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr9:13975711-13976313	HUVEC	blood vessel:	n/a	n/a
21	FOS	chr9:13983426-13983930	HUVEC	blood vessel:	n/a	chr9:13983801-13983810 chr9:13983807-13983816
22	FOS	chr9:13992341-13992397	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr9:13979241-13979708	MCF10A-Er-Src	breast:	n/a	n/a
24	FOXA1	chr9:13979647-13979889	T-47D	breast:	n/a	chr9:13979782-13979797
25	FOXA1	chr9:13979632-13979896	HepG2	liver:	n/a	chr9:13979782-13979797
26	FOXA1	chr9:13979640-13979919	HepG2	liver:	n/a	chr9:13979782-13979797
27	FOXA1	chr9:13979572-13979967	T-47D	breast:	n/a	chr9:13979782-13979797
28	GATA2	chr9:13975821-13976289	HUVEC	blood vessel:	n/a	n/a
29	GATA3	chr9:13977725-13977863	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr9:13975279-13976380	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr9:13975389-13976140	SK-N-SH	brain:	n/a	n/a
32	JUN	chr9:13983461-13983995	HUVEC	blood vessel:	n/a	chr9:13983801-13983810 chr9:13983807-13983816 chr9:13983803-13983816
33	JUN	chr9:13983633-13983998	HepG2	liver:	n/a	chr9:13983801-13983810 chr9:13983807-13983816 chr9:13983803-13983816
34	JUN	chr9:13992681-13992802	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUND	chr9:13975486-13976075	SK-N-SH	brain:	n/a	n/a
36	JUND	chr9:13983601-13984004	HepG2	liver:	n/a	chr9:13983801-13983810 chr9:13983807-13983816
37	JUND	chr9:13983782-13983909	K562	blood:	n/a	chr9:13983801-13983810 chr9:13983807-13983816
38	KAP1	chr9:13971650-13972552	HEK293	kidney:	n/a	n/a
39	KAP1	chr9:13992193-13992965	U2OS	brain:	n/a	n/a
40	KAP1	chr9:13979354-13980164	U2OS	brain:	n/a	n/a
41	KAP1	chr9:13991336-13992846	HEK293	kidney:	n/a	n/a
42	KAP1	chr9:13976687-13977083	U2OS	brain:	n/a	n/a
43	KAP1	chr9:13979262-13980242	HEK293	kidney:	n/a	n/a
44	MAFF	chr9:13970059-13970576	HepG2	liver:	n/a	chr9:13970186-13970204
45	MAFF	chr9:13970078-13970372	K562	blood:	n/a	chr9:13970186-13970204
46	MAFK	chr9:13970030-13970685	HepG2	liver:	n/a	chr9:13970188-13970203
47	MAFK	chr9:13970039-13970601	IMR90	lung:	n/a	chr9:13970188-13970203
48	MAFK	chr9:13970053-13970661	HepG2	liver:	n/a	chr9:13970188-13970203
49	MAX	chr9:13992090-13992526	Hela-S3	cervix:	n/a	n/a
50	MAX	chr9:13971982-13972322	ECC-1	luminal epithelium:	n/a	chr9:13972100-13972109 chr9:13972098-13972111 chr9:13972099-13972108 chr9:13972100-13972107 chr9:13972099-13972110

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:13977418..13979333-chr9:13982730..13984580,2	K562	blood:
2	chr9:13977418..13979333-chr9:13982730..13984580,2	K562	blood:

Variant related genes	Relation type
PES1P2	TF binding region

Extended variants
information (count: 1868 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1868 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13291790	chr9:13970372-13970373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186825472	chr9:13970375-13970376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376645218	chr9:13970381-13970382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376723586	chr9:13970385-13970386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376048220	chr9:13970424-13970425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190817035	chr9:13970439-13970440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183416217	chr9:13970446-13970447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564564553	chr9:13970482-13970483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571732718	chr9:13970490-13970491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549562889	chr9:13970494-13970495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12342091	chr9:13970550-13970551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188838334	chr9:13970551-13970552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75604207	chr9:13970600-13970601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529135683	chr9:13970659-13970660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369087867	chr9:13970693-13970694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77582284	chr9:13970713-13970714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75992845	chr9:13970714-13970715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193054965	chr9:13970741-13970742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565559147	chr9:13970759-13970760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537274951	chr9:13970761-13970762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138194031	chr9:13970772-13970773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571908319	chr9:13970775-13970776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571364922	chr9:13970776-13970777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540067918	chr9:13970785-13970786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143694207	chr9:13970820-13970821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576676340	chr9:13970873-13970874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535796256	chr9:13970881-13970882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555978915	chr9:13970882-13970883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572358502	chr9:13970909-13970910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541406776	chr9:13970959-13970960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147224013	chr9:13970966-13970967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577692229	chr9:13971022-13971023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543246625	chr9:13971023-13971024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59886104	chr9:13971034-13971035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185187929	chr9:13971042-13971043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549008599	chr9:13971069-13971070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559557105	chr9:13971077-13971078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528123171	chr9:13971099-13971100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551337571	chr9:13971119-13971120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34970643	chr9:13971143-13971144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200978960	chr9:13971151-13971152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397698813	chr9:13971152-13971153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77037029	chr9:13971176-13971177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537161247	chr9:13971188-13971189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550668708	chr9:13971232-13971233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147945498	chr9:13971248-13971249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570266335	chr9:13971303-13971304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536004943	chr9:13971306-13971307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555827599	chr9:13971315-13971316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62533734	chr9:13971317-13971318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	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
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13967800-13971400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:13967800-13971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:13968000-13971600	Weak transcription	Fetal Lung	lung
4	chr9:13969600-13970600	Enhancers	Psoas Muscle	Psoas
5	chr9:13969600-13970600	Enhancers	Right Atrium	heart
6	chr9:13969600-13972400	Enhancers	Left Ventricle	heart
7	chr9:13969800-13970400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr9:13969800-13970600	Enhancers	Right Ventricle	heart
9	chr9:13969800-13971000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr9:13970000-13970400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr9:13970000-13970600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr9:13970000-13971600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:13970200-13971400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:13970200-13972800	Enhancers	Fetal Heart	heart
15	chr9:13970400-13970800	Enhancers	Fetal Muscle Leg	muscle
16	chr9:13970400-13971000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:13970600-13971600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:13970600-13971600	Weak transcription	Right Atrium	heart
19	chr9:13970600-13971600	Weak transcription	Right Ventricle	heart
20	chr9:13970600-13972400	Weak transcription	Psoas Muscle	Psoas
21	chr9:13970800-13976600	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:13971000-13971600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:13971400-13972200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:13971400-13972200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:13971400-13972400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:13971400-13972600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:13971400-13972600	Enhancers	HUVEC	blood vessel
28	chr9:13971400-13973000	Enhancers	Fetal Kidney	kidney
29	chr9:13971600-13972000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:13971600-13972200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:13971600-13972400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:13971600-13972400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:13971600-13972400	Enhancers	Fetal Intestine Small	intestine
34	chr9:13971600-13972400	Enhancers	Right Ventricle	heart
35	chr9:13971600-13972600	Enhancers	Right Atrium	heart
36	chr9:13971600-13972800	Enhancers	Fetal Lung	lung
37	chr9:13971800-13972600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:13972000-13972200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:13972000-13972400	Enhancers	Ovary	ovary
40	chr9:13972200-13975600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:13972200-13975800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:13972400-13972600	Enhancers	Psoas Muscle	Psoas
43	chr9:13972400-13977400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:13972600-13975000	Weak transcription	Psoas Muscle	Psoas
45	chr9:13972600-13975400	Weak transcription	HUVEC	blood vessel
46	chr9:13972800-13979600	Weak transcription	Fetal Lung	lung
47	chr9:13973000-13975200	Weak transcription	Fetal Kidney	kidney
48	chr9:13974400-13976400	Enhancers	HSMM	muscle
49	chr9:13974600-13975400	Enhancers	Dnd41	blood
50	chr9:13974600-13975400	Enhancers	HSMMtube	muscle

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