Variant report

Variant	esv3423694
Chromosome Location	chr12:46733685-46745567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46737302..46738856-chr12:46747775..46750068,2	K562	blood:
2	chr12:46737649..46740017-chr12:46750848..46753448,3	MCF-7	breast:
3	chr12:46737684..46739517-chr12:46751004..46752577,2	K562	blood:
4	chr12:46660537..46663877-chr12:46734524..46736795,3	MCF-7	breast:
5	chr12:46736517..46738567-chr12:46764679..46766585,2	K562	blood:
6	chr12:46661464..46663971-chr12:46734593..46736197,2	MCF-7	breast:
7	chr12:46547322..46549360-chr12:46744553..46747432,2	MCF-7	breast:
8	chr12:46735506..46737094-chr12:46885760..46887551,2	MCF-7	breast:
9	chr12:46661301..46664221-chr12:46741809..46743779,2	MCF-7	breast:
10	chr12:46735641..46738339-chr12:46748312..46750267,2	MCF-7	breast:
11	chr12:46736349..46738676-chr12:46759246..46761971,2	MCF-7	breast:
12	chr12:46735335..46740420-chr12:46762976..46767704,6	MCF-7	breast:
13	chr12:46666230..46667792-chr12:46741262..46742919,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111371	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000258096	chromatin interactions

Extended variants
information (count: 480 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113664238	chr12:46733701-46733702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61455225	chr12:46733734-46733735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374825910	chr12:46733735-46733736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397965466	chr12:46733744-46733745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527642942	chr12:46733759-46733760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75107297	chr12:46733760-46733761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543041327	chr12:46733763-46733764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533245037	chr12:46733766-46733767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550386466	chr12:46733828-46733829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147425861	chr12:46733850-46733851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536171169	chr12:46733870-46733871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139740007	chr12:46733871-46733872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568072761	chr12:46733883-46733884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533724092	chr12:46733901-46733902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564943492	chr12:46733953-46733954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181324455	chr12:46733982-46733983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185980193	chr12:46733990-46733991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576767084	chr12:46734004-46734005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375677382	chr12:46734012-46734013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190543188	chr12:46734078-46734079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183571927	chr12:46734082-46734083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559699613	chr12:46734097-46734098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386762737	chr12:46734105-46734106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556351519	chr12:46734136-46734137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559455997	chr12:46734153-46734154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529886178	chr12:46734161-46734162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576128286	chr12:46734169-46734170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145305879	chr12:46734210-46734211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189007102	chr12:46734220-46734221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572108547	chr12:46734228-46734229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117908443	chr12:46734324-46734325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192113522	chr12:46734330-46734331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533280712	chr12:46734351-46734352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147182407	chr12:46734359-46734360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563924652	chr12:46734415-46734416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140509766	chr12:46734439-46734440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549654799	chr12:46734496-46734497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182655287	chr12:46734552-46734553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186719011	chr12:46734558-46734559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556310504	chr12:46734578-46734579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144725205	chr12:46734681-46734682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547449753	chr12:46734690-46734691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191571594	chr12:46734728-46734729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539539928	chr12:46734733-46734734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555949734	chr12:46734754-46734755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58015896	chr12:46734840-46734841	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183907837	chr12:46734843-46734844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535247699	chr12:46734868-46734869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187150064	chr12:46734872-46734873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572045740	chr12:46734928-46734929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21542898	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46708800-46736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:46736200-46736400	Enhancers	HepG2	liver
3	chr12:46736200-46737000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:46736200-46737000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:46736200-46737200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:46736200-46737200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:46736200-46737200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:46736200-46737200	Enhancers	Stomach Mucosa	stomach
9	chr12:46736200-46737400	Enhancers	NHEK	skin
10	chr12:46736200-46737600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:46736200-46737600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:46736200-46737800	Enhancers	HMEC	breast
13	chr12:46736400-46736600	Enhancers	Hela-S3	cervix
14	chr12:46736400-46736800	Flanking Active TSS	HepG2	liver
15	chr12:46736400-46737000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:46736400-46737000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:46736400-46737000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:46736400-46737000	Enhancers	NHDF-Ad	bronchial
19	chr12:46736400-46737200	Enhancers	Osteobl	bone
20	chr12:46736400-46737400	Enhancers	Esophagus	oesophagus
21	chr12:46736400-46737400	Enhancers	A549	lung
22	chr12:46736600-46736800	Enhancers	Colon Smooth Muscle	Colon
23	chr12:46736600-46736800	Enhancers	Right Ventricle	heart
24	chr12:46736600-46737000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:46736600-46737000	Enhancers	Adipose Nuclei	Adipose
26	chr12:46736600-46737000	Enhancers	Right Atrium	heart
27	chr12:46736600-46737000	Enhancers	HUVEC	blood vessel
28	chr12:46736600-46737000	Enhancers	K562	blood
29	chr12:46736600-46737000	Enhancers	NHLF	lung
30	chr12:46736600-46737200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:46736600-46737200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:46736600-46737200	Enhancers	Aorta	Aorta
33	chr12:46736600-46737200	Enhancers	Psoas Muscle	Psoas
34	chr12:46736600-46737200	Flanking Active TSS	Hela-S3	cervix
35	chr12:46736600-46737600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:46736600-46737600	Enhancers	Pancreas	Pancrea
37	chr12:46736800-46737400	Enhancers	HepG2	liver
38	chr12:46736800-46737600	Enhancers	Gastric	stomach
39	chr12:46736800-46743000	Weak transcription	Right Ventricle	heart
40	chr12:46737000-46745800	Weak transcription	Adipose Nuclei	Adipose
41	chr12:46737200-46737800	Enhancers	Hela-S3	cervix
42	chr12:46737200-46754800	Weak transcription	Psoas Muscle	Psoas
43	chr12:46737600-46753600	Weak transcription	Pancreas	Pancrea
44	chr12:46737600-46761200	Weak transcription	Gastric	stomach
45	chr12:46743000-46743200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr12:46743000-46743200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:46743000-46743200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:46743000-46743200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:46743000-46743200	Bivalent Enhancer	HepG2	liver
50	chr12:46743000-46743600	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links