Variant report

Variant	nsv528464
Chromosome Location	chr9:13137603-13147764
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	chr9:13139658-13140155	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr9:13146894-13147191	MCF-7	breast:	n/a	chr9:13147121-13147134 chr9:13147021-13147032 chr9:13147123-13147134
3	CEBPB	chr9:13146855-13147270	IMR90	lung:	n/a	chr9:13147121-13147134 chr9:13147021-13147032 chr9:13147123-13147134
4	CEBPB	chr9:13139612-13140217	IMR90	lung:	n/a	n/a
5	CEBPB	chr9:13146906-13147196	A549	lung:	n/a	chr9:13147121-13147134 chr9:13147021-13147032 chr9:13147123-13147134
6	CEBPB	chr9:13146884-13147175	HepG2	liver:	n/a	chr9:13147121-13147134 chr9:13147021-13147032 chr9:13147123-13147134
7	CHD2	chr9:13139703-13140094	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr9:13139520-13139670	AG04449	skin:	n/a	n/a
9	CTCF	chr9:13140989-13141031	GM10248	blood:	n/a	n/a
10	E2F4	chr9:13139567-13139909	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr9:13139627-13139989	Hela-S3	cervix:	n/a	chr9:13139838-13139848
12	EP300	chr9:13139547-13139909	SK-N-SH_RA	brain:	n/a	chr9:13139838-13139848
13	EP300	chr9:13146882-13147166	K562	blood:	n/a	n/a
14	EP300	chr9:13141644-13141969	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr9:13145196-13145669	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr9:13141636-13142159	MCF-7	breast:	n/a	n/a
17	EP300	chr9:13139406-13140327	SK-N-SH	brain:	n/a	chr9:13139838-13139848 chr9:13140205-13140219
18	EP300	chr9:13139575-13139925	SK-N-SH_RA	brain:	n/a	chr9:13139838-13139848
19	EP300	chr9:13141637-13141917	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr9:13144967-13145857	SK-N-SH	brain:	n/a	n/a
21	FOS	chr9:13139584-13140156	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr9:13139633-13139979	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr9:13139553-13139991	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr9:13139676-13139984	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr9:13139639-13139973	MCF10A-Er-Src	breast:	n/a	n/a
26	FOSL2	chr9:13139501-13140229	SK-N-SH	brain:	n/a	n/a
27	FOSL2	chr9:13141696-13142083	MCF-7	breast:	n/a	n/a
28	FOSL2	chr9:13139559-13139933	A549	lung:	n/a	n/a
29	FOXA2	chr9:13146914-13147116	HepG2	liver:	n/a	chr9:13147038-13147050
30	FOXM1	chr9:13141703-13142037	MCF-7	breast:	n/a	n/a
31	FOXP2	chr9:13142879-13143126	SK-N-MC	brain:	n/a	n/a
32	FOXP2	chr9:13142783-13143157	SK-N-MC	brain:	n/a	n/a
33	FOXP2	chr9:13144490-13144787	SK-N-MC	brain:	n/a	n/a
34	GATA2	chr9:13140838-13141094	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr9:13140834-13141181	T-47D	breast:	n/a	n/a
36	GATA3	chr9:13141600-13142204	MCF-7	breast:	n/a	n/a
37	GATA3	chr9:13147002-13147570	MCF-7	breast:	n/a	n/a
38	GATA3	chr9:13147011-13147329	MCF-7	breast:	n/a	n/a
39	GATA3	chr9:13139321-13140294	SK-N-SH	brain:	n/a	chr9:13139785-13139795
40	GATA3	chr9:13145276-13145799	SH-SY5Y	brain:	n/a	chr9:13145497-13145506
41	GATA3	chr9:13145272-13145855	SK-N-SH	brain:	n/a	chr9:13145497-13145506
42	GATA3	chr9:13141596-13142153	MCF-7	breast:	n/a	n/a
43	GATA3	chr9:13145225-13145808	SK-N-SH	brain:	n/a	chr9:13145497-13145506
44	GATA3	chr9:13140989-13141053	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr9:13141603-13142065	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr9:13140813-13141182	T-47D	breast:	n/a	n/a
47	GATA3	chr9:13140786-13141205	MCF-7	breast:	n/a	n/a
48	GATA3	chr9:13140660-13141345	SK-N-SH	brain:	n/a	n/a
49	GATA3	chr9:13141738-13141954	MCF-7	breast:	n/a	n/a
50	GATA3	chr9:13141466-13142110	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:13099537..13101965-chr9:13137180..13139095,2	MCF-7	breast:
2	chr9:13138755..13141262-chr9:13142656..13144698,2	MCF-7	breast:

Variant related genes	Relation type
MPDZ	TF binding region
ENSG00000107186	chromatin interactions

Extended variants
information (count: 439 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7035244	chr9:13137603-13137604	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371117680	chr9:13137626-13137627	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551596288	chr9:13137668-13137669	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs563910486	chr9:13137752-13137753	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs188208585	chr9:13137754-13137755	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs539575612	chr9:13137787-13137788	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556213589	chr9:13137801-13137802	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79579536	chr9:13137828-13137829	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555472099	chr9:13137842-13137843	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543198901	chr9:13137879-13137880	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77470503	chr9:13137889-13137890	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370086731	chr9:13137906-13137907	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541724641	chr9:13137922-13137923	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373455909	chr9:13137951-13137952	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534991500	chr9:13137964-13137965	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369300827	chr9:13137991-13137992	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376489902	chr9:13138002-13138003	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145892665	chr9:13138011-13138012	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs267602142	chr9:13138043-13138044	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192114602	chr9:13138048-13138049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370823821	chr9:13138057-13138058	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374236624	chr9:13138070-13138071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543556436	chr9:13138076-13138077	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368239297	chr9:13138090-13138091	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563333580	chr9:13138099-13138100	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371081479	chr9:13138114-13138115	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377489960	chr9:13138118-13138119	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374429110	chr9:13138137-13138138	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367729260	chr9:13138148-13138149	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554094224	chr9:13138157-13138158	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371393252	chr9:13138193-13138194	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542654570	chr9:13138216-13138217	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76606100	chr9:13138240-13138241	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528423481	chr9:13138290-13138291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138498463	chr9:13138306-13138307	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551395536	chr9:13138354-13138355	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564761770	chr9:13138370-13138371	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530586526	chr9:13138382-13138383	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549864053	chr9:13138386-13138387	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376806550	chr9:13138387-13138388	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551543859	chr9:13138425-13138426	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569859157	chr9:13138435-13138436	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564900924	chr9:13138446-13138447	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369837905	chr9:13138475-13138476	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141175548	chr9:13138516-13138517	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115845382	chr9:13138548-13138549	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143238694	chr9:13138562-13138563	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374355380	chr9:13138595-13138596	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78743394	chr9:13138601-13138602	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377716573	chr9:13138630-13138631	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Renal cell carcinoma	21215367	CNVD
Cancer	21215367	CNVD

Chromatin state (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13097800-13139400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:13101600-13141600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:13103200-13143400	Weak transcription	Pancreas	Pancrea
4	chr9:13103200-13163400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:13103200-13175600	Weak transcription	HepG2	liver
6	chr9:13103800-13139400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:13105600-13144600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:13106000-13153400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:13106600-13139200	Weak transcription	NHEK	skin
10	chr9:13109200-13138800	Weak transcription	Spleen	Spleen
11	chr9:13109200-13139400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:13112200-13143600	Weak transcription	Gastric	stomach
13	chr9:13114600-13139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:13114600-13139400	Weak transcription	NHDF-Ad	bronchial
15	chr9:13116000-13139800	Strong transcription	Liver	Liver
16	chr9:13118000-13139000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:13118200-13138800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:13118400-13139600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:13118800-13139600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:13118800-13139800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr9:13121600-13225200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr9:13121800-13139800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:13122600-13186400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:13127800-13138600	Weak transcription	Colonic Mucosa	Colon
25	chr9:13128400-13139400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:13129400-13138800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:13130000-13138800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:13130200-13139000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:13130400-13138400	Strong transcription	Osteobl	bone
30	chr9:13130400-13139400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr9:13130800-13138200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:13130800-13138400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:13130800-13139400	Strong transcription	Fetal Muscle Leg	muscle
34	chr9:13130800-13139400	Strong transcription	HSMM	muscle
35	chr9:13131200-13139600	Strong transcription	Fetal Intestine Large	intestine
36	chr9:13131200-13140200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr9:13131400-13139000	Strong transcription	Adipose Nuclei	Adipose
38	chr9:13131400-13140000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr9:13131800-13138600	Strong transcription	Fetal Brain Female	brain
40	chr9:13132000-13140000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr9:13132400-13139600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:13132600-13138200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr9:13132600-13139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:13133000-13139800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:13133400-13138800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr9:13134200-13139200	Weak transcription	HMEC	breast
47	chr9:13134400-13140200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr9:13134600-13138400	Strong transcription	Brain Angular Gyrus	brain
49	chr9:13134600-13138400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:13134600-13138800	Strong transcription	Colon Smooth Muscle	Colon

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