Variant report

Variant	esv3492045
Chromosome Location	chr12:104378579-104379455
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	POLR2A	chr12:104379437-104379500	MCF-7	breast:	n/a	n/a
2	POLR2A	chr12:104378895-104378907	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104364267..104367088-chr12:104376743..104378838,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215976	TF binding region
TDG	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546846621	chr12:104378588-104378589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4135120	chr12:104378601-104378602	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140103994	chr12:104378609-104378610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375557368	chr12:104378610-104378611	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538758245	chr12:104378614-104378615	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144056251	chr12:104378656-104378657	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140299122	chr12:104378664-104378665	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201252761	chr12:104378670-104378671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369458940	chr12:104378682-104378683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201670714	chr12:104378731-104378732	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11834169	chr12:104378741-104378742	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35589874	chr12:104378762-104378763	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4135121	chr12:104378763-104378764	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28588982	chr12:104378764-104378765	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202167902	chr12:104378770-104378771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398116825	chr12:104378771-104378772	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201604761	chr12:104378772-104378773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575598681	chr12:104378775-104378776	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28689116	chr12:104378780-104378781	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11832044	chr12:104378782-104378783	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28570436	chr12:104378786-104378787	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11829639	chr12:104378788-104378789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563468168	chr12:104378790-104378791	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573893181	chr12:104378792-104378793	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542912838	chr12:104378793-104378794	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531971516	chr12:104378794-104378795	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28411039	chr12:104378796-104378797	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186008155	chr12:104378806-104378807	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528255694	chr12:104378811-104378812	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4135122	chr12:104378826-104378827	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566564641	chr12:104378827-104378828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11834638	chr12:104378831-104378832	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10549241	chr12:104378840-104378841	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201521855	chr12:104378841-104378842	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61937631	chr12:104378843-104378844	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61937632	chr12:104378850-104378851	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61937633	chr12:104378852-104378853	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28501169	chr12:104378855-104378856	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201185618	chr12:104378858-104378859	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4135124	chr12:104378863-104378864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534005968	chr12:104378900-104378901	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs537868997	chr12:104378920-104378921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373023385	chr12:104378921-104378922	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536192136	chr12:104378922-104378923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200030644	chr12:104378927-104378928	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199580549	chr12:104378928-104378929	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201113834	chr12:104378929-104378930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201356774	chr12:104378938-104378939	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200981623	chr12:104378940-104378941	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374367478	chr12:104378941-104378942	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
6	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
8	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:104363800-104382400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:104364000-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:104364600-104383800	Strong transcription	Dnd41	blood
12	chr12:104366600-104383600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:104366800-104380400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:104366800-104381600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:104367600-104381000	Strong transcription	GM12878-XiMat	blood
16	chr12:104368200-104380600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:104368800-104381000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr12:104368800-104381600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr12:104369200-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:104369200-104381000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:104369200-104381000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr12:104369200-104383800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:104369400-104380800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:104369400-104381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:104369400-104381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:104369600-104381600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:104369800-104383600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:104370000-104379600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:104370000-104381600	Strong transcription	Fetal Thymus	thymus
30	chr12:104370200-104381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:104370200-104381000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:104370200-104381000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:104370200-104384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:104370400-104379800	Strong transcription	K562	blood
35	chr12:104370400-104380400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:104370400-104380800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:104370400-104381000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:104370400-104381000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:104370400-104381000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:104370400-104381000	Strong transcription	HSMM	muscle
41	chr12:104370400-104381000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:104370400-104383600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:104370400-104385000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:104370400-104385600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:104370600-104380000	Strong transcription	NH-A	brain
46	chr12:104370600-104380400	Strong transcription	Osteobl	bone
47	chr12:104370600-104380800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:104370600-104380800	Strong transcription	HSMMtube	muscle
49	chr12:104370600-104381000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:104370600-104381000	Strong transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links