Variant report

Variant	nsv983481
Chromosome Location	chr12:9423000-9426898
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	BRCA1	chr12:9425592-9426520	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:9425959-9426175	HepG2	liver:	n/a	chr12:9426088-9426101 chr12:9426088-9426099
3	CEBPB	chr12:9425769-9426325	MCF-7	breast:	n/a	chr12:9426088-9426101 chr12:9426088-9426099
4	CEBPB	chr12:9425770-9426296	MCF-7	breast:	n/a	chr12:9426088-9426101 chr12:9426088-9426099
5	CEBPB	chr12:9425858-9426344	A549	lung:	n/a	chr12:9426088-9426101 chr12:9426088-9426099
6	CEBPB	chr12:9425943-9426247	K562	blood:	n/a	chr12:9426088-9426101 chr12:9426088-9426099
7	CEBPB	chr12:9425969-9426267	A549	lung:	n/a	chr12:9426088-9426101 chr12:9426088-9426099
8	CEBPB	chr12:9426770-9427437	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr12:9425901-9426291	IMR90	lung:	n/a	chr12:9426088-9426101 chr12:9426088-9426099
10	CEBPB	chr12:9425540-9426480	Hela-S3	cervix:	n/a	chr12:9426088-9426101 chr12:9426088-9426099
11	EP300	chr12:9425749-9426516	Hela-S3	cervix:	n/a	chr12:9426089-9426103 chr12:9426292-9426306 chr12:9426077-9426086
12	FOS	chr12:9425818-9426240	Hela-S3	cervix:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
13	FOS	chr12:9426752-9427052	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr12:9425749-9426514	MCF10A-Er-Src	breast:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
15	FOS	chr12:9425893-9426460	MCF10A-Er-Src	breast:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
16	FOS	chr12:9426845-9427082	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr12:9425864-9426365	MCF10A-Er-Src	breast:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
18	FOS	chr12:9425912-9426202	HUVEC	blood vessel:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
19	FOS	chr12:9425665-9426459	MCF10A-Er-Src	breast:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
20	FOSL2	chr12:9425784-9426227	MCF-7	breast:	n/a	chr12:9426076-9426088 chr12:9426077-9426086 chr12:9426078-9426087
21	FOXM1	chr12:9425660-9426384	MCF-7	breast:	n/a	n/a
22	GATA2	chr12:9423629-9423879	SH-SY5Y	brain:	n/a	chr12:9423852-9423861 chr12:9423854-9423861 chr12:9423852-9423862
23	GATA3	chr12:9423656-9424365	MCF-7	breast:	n/a	chr12:9423852-9423861 chr12:9423854-9423861 chr12:9423852-9423862
24	GATA3	chr12:9425689-9426511	MCF-7	breast:	n/a	chr12:9425974-9425981 chr12:9426010-9426019 chr12:9425973-9425981 chr12:9426007-9426023
25	GATA3	chr12:9425800-9426239	MCF-7	breast:	n/a	chr12:9425974-9425981 chr12:9426010-9426019 chr12:9425973-9425981 chr12:9426007-9426023
26	GATA3	chr12:9425651-9426209	MCF-7	breast:	n/a	chr12:9425974-9425981 chr12:9426010-9426019 chr12:9425973-9425981 chr12:9426007-9426023
27	GATA3	chr12:9425669-9426353	MCF-7	breast:	n/a	chr12:9425974-9425981 chr12:9426010-9426019 chr12:9425973-9425981 chr12:9426007-9426023
28	GATA3	chr12:9425886-9426186	SK-N-SH	brain:	n/a	chr12:9425974-9425981 chr12:9426010-9426019 chr12:9425973-9425981 chr12:9426007-9426023
29	GATA3	chr12:9423706-9424058	SH-SY5Y	brain:	n/a	chr12:9423852-9423861 chr12:9423854-9423861 chr12:9423852-9423862
30	GATA3	chr12:9423777-9424508	MCF-7	breast:	n/a	chr12:9423852-9423861 chr12:9423854-9423861 chr12:9423852-9423862
31	GATA3	chr12:9425590-9426370	A549	lung:	n/a	chr12:9425974-9425981 chr12:9426010-9426019 chr12:9425973-9425981 chr12:9426007-9426023
32	GATA3	chr12:9423847-9424395	MCF-7	breast:	n/a	chr12:9423852-9423861 chr12:9423854-9423861 chr12:9423852-9423862
33	HDAC2	chr12:9425807-9426284	MCF-7	breast:	n/a	n/a
34	JUN	chr12:9425552-9426473	Hela-S3	cervix:	n/a	chr12:9426076-9426088 chr12:9426077-9426086 chr12:9426078-9426087 chr12:9426089-9426102
35	JUN	chr12:9425930-9426246	HepG2	liver:	n/a	chr12:9426076-9426088 chr12:9426077-9426086 chr12:9426078-9426087 chr12:9426089-9426102
36	JUND	chr12:9425942-9426248	K562	blood:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
37	JUND	chr12:9425772-9426299	MCF-7	breast:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
38	JUND	chr12:9425783-9426331	MCF-7	breast:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
39	JUND	chr12:9425632-9426529	Hela-S3	cervix:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
40	JUND	chr12:9425915-9426278	HepG2	liver:	n/a	chr12:9426076-9426088 chr12:9426076-9426087 chr12:9426077-9426086 chr12:9426078-9426087
41	KAP1	chr12:9425739-9426448	U2OS	brain:	n/a	chr12:9426076-9426085
42	KAP1	chr12:9425619-9426401	HEK293	kidney:	n/a	chr12:9426076-9426085
43	MAX	chr12:9426257-9426404	NB4	blood:	n/a	chr12:9426310-9426320 chr12:9426311-9426321
44	MXI1	chr12:9425471-9425479	GM12878	blood:	n/a	n/a
45	MYC	chr12:9425847-9426505	MCF10A-Er-Src	breast:	n/a	chr12:9426310-9426320 chr12:9426091-9426100 chr12:9426077-9426086 chr12:9426311-9426321
46	MYC	chr12:9425887-9426532	MCF10A-Er-Src	breast:	n/a	chr12:9426310-9426320 chr12:9426091-9426100 chr12:9426077-9426086 chr12:9426311-9426321
47	MYC	chr12:9426769-9426947	MCF10A-Er-Src	breast:	n/a	n/a
48	NR2F2	chr12:9425687-9426172	MCF-7	breast:	n/a	n/a
49	NR2F2	chr12:9425804-9426284	MCF-7	breast:	n/a	n/a
50	NR2F2	chr12:9423998-9424514	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:9420935..9423914-chr12:9424246..9425796,2	MCF-7	breast:
2	chr12:9423490..9426134-chr12:9432405..9434234,2	MCF-7	breast:
3	chr12:9423398..9426359-chr12:9434637..9436174,2	K562	blood:
4	chr12:9420935..9423914-chr12:9424246..9425796,2	MCF-7	breast:

Variant related genes	Relation type
A2MP1	TF binding region
ENSG00000111788	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142341169	chr12:9423121-9423122	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150272636	chr12:9423170-9423171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546653847	chr12:9423233-9423234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34335	chr12:9423238-9423239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191074918	chr12:9423256-9423257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182920252	chr12:9423334-9423335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538599809	chr12:9423355-9423356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186863339	chr12:9423356-9423357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372082721	chr12:9423365-9423366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191346911	chr12:9423447-9423448	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs34336	chr12:9423590-9423591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183149772	chr12:9423603-9423604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371091812	chr12:9423665-9423666	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs569518999	chr12:9423689-9423690	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs138924594	chr12:9423690-9423691	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs149408688	chr12:9423745-9423746	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs11049914	chr12:9423765-9423766	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs144772300	chr12:9423780-9423781	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs377073150	chr12:9423818-9423819	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs187819287	chr12:9423899-9423900	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs79211799	chr12:9423974-9423975	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs191454635	chr12:9424015-9424016	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182208356	chr12:9424047-9424048	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187559829	chr12:9424063-9424064	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs138397205	chr12:9424077-9424078	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192560587	chr12:9424102-9424103	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs57512405	chr12:9424154-9424155	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185164788	chr12:9424256-9424257	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs554207047	chr12:9424266-9424267	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs75135800	chr12:9424275-9424276	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs575054580	chr12:9424283-9424284	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs34337	chr12:9424308-9424309	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs73236992	chr12:9424355-9424356	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs111615097	chr12:9424397-9424398	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs190098190	chr12:9424446-9424447	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs141673093	chr12:9424532-9424533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76397473	chr12:9424539-9424540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192881521	chr12:9424579-9424580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12581534	chr12:9424613-9424614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs571513356	chr12:9424638-9424639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534227131	chr12:9424656-9424657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376074793	chr12:9424710-9424711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570305875	chr12:9424745-9424746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80064432	chr12:9424749-9424750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565063993	chr12:9424754-9424755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146209905	chr12:9424801-9424802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139140668	chr12:9424847-9424848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544148972	chr12:9424898-9424899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184962369	chr12:9424936-9424937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149494436	chr12:9424987-9424988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9418800-9423400	Weak transcription	Hela-S3	cervix
2	chr12:9421200-9425800	Weak transcription	NHEK	skin
3	chr12:9422400-9425800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:9423400-9425600	Enhancers	Hela-S3	cervix
5	chr12:9425600-9426000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:9425600-9426000	Flanking Active TSS	Hela-S3	cervix
7	chr12:9425600-9426400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:9425600-9427000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:9425600-9427000	Enhancers	HMEC	breast
10	chr12:9425800-9426000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:9425800-9426200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:9425800-9426400	Enhancers	NHEK	skin
13	chr12:9425800-9426400	Enhancers	Osteobl	bone
14	chr12:9425800-9426800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:9426000-9426400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:9426000-9427400	Enhancers	Hela-S3	cervix
17	chr12:9426400-9429400	Weak transcription	NHEK	skin
18	chr12:9426800-9427000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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