Variant report

Variant	esv3445801
Chromosome Location	chr12:1056631-1056999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1056985..1060702-chr12:1098122..1101434,9	MCF-7	breast:
2	chr12:860213..861917-chr12:1056995..1059720,2	MCF-7	breast:
3	chr12:1055433..1057591-chr12:1061024..1063220,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082805	chromatin interactions
ENSG00000250132	chromatin interactions
ENSG00000060237	chromatin interactions
ENSG00000002016	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 85 )

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	rs548301042	chr12:1056631-1056632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546044135	chr12:1056642-1056643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10849600	chr12:1056672-1056673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573063628	chr12:1056676-1056677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182417059	chr12:1056679-1056680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11064609	chr12:1056687-1056688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528890195	chr12:1056688-1056689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539045738	chr12:1056748-1056749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543781838	chr12:1056803-1056804	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10744730	chr12:1056822-1056823	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112208088	chr12:1056848-1056849	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11064610	chr12:1056851-1056852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111560072	chr12:1056865-1056866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113346129	chr12:1056870-1056871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs113774963	chr12:1056881-1056882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs185371405	chr12:1056883-1056884	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113189511	chr12:1056888-1056889	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112488759	chr12:1056911-1056912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528677975	chr12:1056921-1056922	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs113538173	chr12:1056926-1056927	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs570701930	chr12:1056968-1056969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189736976	chr12:1056976-1056977	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1024800-1057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:1039200-1057600	Weak transcription	Colonic Mucosa	Colon
3	chr12:1039400-1057000	Weak transcription	HMEC	breast
4	chr12:1039400-1057600	Weak transcription	Fetal Brain Male	brain
5	chr12:1039600-1057400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:1040600-1056800	Weak transcription	NHLF	lung
7	chr12:1040600-1057600	Weak transcription	Right Ventricle	heart
8	chr12:1040800-1057000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:1040800-1057400	Weak transcription	Brain Germinal Matrix	brain
10	chr12:1040800-1057600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:1040800-1057800	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:1041000-1057400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:1041000-1057400	Weak transcription	Fetal Kidney	kidney
14	chr12:1041000-1057600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:1041000-1057600	Weak transcription	NH-A	brain
16	chr12:1041200-1057000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:1041200-1057200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:1041200-1057200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:1041200-1057200	Weak transcription	HUVEC	blood vessel
20	chr12:1041200-1057600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:1041200-1057600	Weak transcription	Gastric	stomach
22	chr12:1041200-1057600	Weak transcription	Pancreas	Pancrea
23	chr12:1041200-1057600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:1041200-1057600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:1041200-1058000	Weak transcription	Aorta	Aorta
26	chr12:1041200-1058000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:1041600-1057400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:1041600-1057600	Weak transcription	Left Ventricle	heart
29	chr12:1042200-1057400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:1042200-1057400	Weak transcription	Brain Anterior Caudate	brain
31	chr12:1042400-1057200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:1042800-1057200	Weak transcription	Primary B cells from cord blood	blood
33	chr12:1046400-1057400	Weak transcription	Hela-S3	cervix
34	chr12:1046600-1057400	Weak transcription	Fetal Brain Female	brain
35	chr12:1047000-1057200	Weak transcription	Liver	Liver
36	chr12:1047400-1057600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:1047400-1057600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:1047600-1057400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:1048600-1057000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:1048600-1057400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:1049000-1057200	Weak transcription	Brain Substantia Nigra	brain
42	chr12:1049000-1057400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:1049200-1057600	Weak transcription	Adipose Nuclei	Adipose
44	chr12:1049400-1057400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:1049400-1057400	Weak transcription	Placenta	Placenta
46	chr12:1049600-1057200	Weak transcription	Fetal Lung	lung
47	chr12:1050200-1057400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:1050400-1057200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:1052200-1057400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:1052400-1057000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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