Variant report

Variant	esv3424506
Chromosome Location	chr12:120481288-120481827
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	GATA3	chr12:120481315-120481847	MCF-7	breast:	n/a	chr12:120481594-120481602 chr12:120481423-120481433
2	GATA3	chr12:120481498-120481776	SH-SY5Y	brain:	n/a	chr12:120481594-120481602
3	GATA3	chr12:120481493-120481736	T-47D	breast:	n/a	chr12:120481594-120481602
4	TCF7L2	chr12:120481257-120481884	HEK293	kidney:	n/a	chr12:120481360-120481376 chr12:120481362-120481372 chr12:120481360-120481374 chr12:120481363-120481372 chr12:120481361-120481375 chr12:120481364-120481373 chr12:120481360-120481376 chr12:120481444-120481460
5	TCF7L2	chr12:120481192-120481558	MCF-7	breast:	n/a	chr12:120481360-120481376 chr12:120481362-120481372 chr12:120481360-120481374 chr12:120481363-120481372 chr12:120481361-120481375 chr12:120481364-120481373 chr12:120481360-120481376 chr12:120481444-120481460

No.	Distal block	Cell Line	Cell type
1	chr12:120481092..120482826-chr12:120483215..120484945,2	MCF-7	breast:
2	chr12:120481268..120483505-chr12:120486033..120487661,2	MCF-7	breast:
3	chr12:120472651..120475329-chr12:120480082..120481970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272464	TF binding region
ENSG00000272464	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143799451	chr12:120481295-120481296	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570365391	chr12:120481328-120481329	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181589719	chr12:120481385-120481386	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546178724	chr12:120481394-120481395	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566596544	chr12:120481407-120481408	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569432132	chr12:120481425-120481426	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185043938	chr12:120481454-120481455	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555407716	chr12:120481490-120481491	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574945301	chr12:120481492-120481493	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537597016	chr12:120481525-120481526	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557734592	chr12:120481539-120481540	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4767874	chr12:120481544-120481545	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577605163	chr12:120481557-120481558	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189412032	chr12:120481574-120481575	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529018660	chr12:120481624-120481625	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73410818	chr12:120481644-120481645	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73410821	chr12:120481719-120481720	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562169810	chr12:120481732-120481733	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs180911413	chr12:120481776-120481777	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185847964	chr12:120481782-120481783	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138483415	chr12:120481791-120481792	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533041026	chr12:120481827-120481828	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120454200-120484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:120479200-120481400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:120479200-120481600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:120479200-120481600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:120479600-120481600	Enhancers	HepG2	liver
6	chr12:120479800-120485000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:120480000-120499200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:120480000-120499200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:120480200-120481400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:120480200-120481400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:120480200-120481600	Enhancers	NHEK	skin
12	chr12:120480200-120484400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:120480200-120484800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:120480200-120485000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:120480200-120485400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:120480800-120482200	Enhancers	Stomach Mucosa	stomach
17	chr12:120480800-120485200	Weak transcription	Primary T cells from cord blood	blood
18	chr12:120481400-120481600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:120481400-120481600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:120481600-120484800	Weak transcription	HepG2	liver
21	chr12:120481600-120485000	Weak transcription	NHEK	skin
22	chr12:120481600-120492200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:120481800-120482000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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