Variant report

Variant	esv3496664
Chromosome Location	chr12:51152014-51153470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:51152525-51152695	K562	blood:	n/a	n/a
2	POLR2A	chr12:51152141-51152275	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:51152414-51152667	K562	blood:	n/a	n/a
4	POLR2A	chr12:51153215-51153327	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51152469..51154086-chr12:51156106..51158025,3	MCF-7	breast:
2	chr12:51138761..51142670-chr12:51152791..51156201,3	K562	blood:
3	chr12:51147055..51148695-chr12:51151932..51154875,2	K562	blood:
4	chr12:51150985..51152690-chr12:51154606..51156360,3	K562	blood:
5	chr12:50884317..50886890-chr12:51151312..51154186,3	MCF-7	breast:

No data

Variant related genes	Relation type
ATF1	TF binding region
ENSG00000123268	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565233836	chr12:51152028-51152029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531049386	chr12:51152029-51152030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550720272	chr12:51152034-51152035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560650712	chr12:51152063-51152064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4511342	chr12:51152065-51152066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186987952	chr12:51152072-51152073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576888502	chr12:51152083-51152084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566376313	chr12:51152098-51152099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192190716	chr12:51152107-51152108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4643131	chr12:51152118-51152119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538627219	chr12:51152125-51152126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4569060	chr12:51152134-51152135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4643130	chr12:51152135-51152136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184397277	chr12:51152217-51152218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569133500	chr12:51152258-51152259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538042945	chr12:51152297-51152298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554776522	chr12:51152321-51152322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574197410	chr12:51152332-51152333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536381137	chr12:51152336-51152337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567250098	chr12:51152366-51152367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553409028	chr12:51152415-51152416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573202863	chr12:51152457-51152458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545375000	chr12:51152506-51152507	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs190500306	chr12:51152512-51152513	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575484393	chr12:51152514-51152515	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs544421447	chr12:51152519-51152520	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561108681	chr12:51152523-51152524	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs534394823	chr12:51152535-51152536	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553085361	chr12:51152548-51152549	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs146473288	chr12:51152577-51152578	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182323319	chr12:51152756-51152757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546427930	chr12:51152777-51152778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139924889	chr12:51152787-51152788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532022087	chr12:51152788-51152789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200142930	chr12:51152823-51152824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569196978	chr12:51152830-51152831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531603319	chr12:51152852-51152853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548488446	chr12:51152866-51152867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568189779	chr12:51152869-51152870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76004999	chr12:51152890-51152891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34470323	chr12:51152990-51152991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533988120	chr12:51152991-51152992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553230127	chr12:51153022-51153023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371470959	chr12:51153054-51153055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184517785	chr12:51153090-51153091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71441400	chr12:51153096-51153097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547835127	chr12:51153106-51153107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11374127	chr12:51153111-51153112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374891338	chr12:51153112-51153113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs55690631	chr12:51153113-51153114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
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
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
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51135800-51156200	Weak transcription	Fetal Kidney	kidney
2	chr12:51139000-51156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:51139600-51156000	Weak transcription	A549	lung
4	chr12:51140400-51156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:51141800-51154400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:51141800-51156600	Weak transcription	Fetal Brain Female	brain
7	chr12:51141800-51156800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:51142000-51156200	Weak transcription	HMEC	breast
9	chr12:51142000-51156200	Weak transcription	Osteobl	bone
10	chr12:51142000-51156800	Weak transcription	Pancreas	Pancrea
11	chr12:51142200-51156000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:51142200-51156200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:51142200-51156200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:51142200-51156400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:51142200-51156400	Weak transcription	NH-A	brain
16	chr12:51142200-51156800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:51142200-51156800	Weak transcription	Spleen	Spleen
18	chr12:51142400-51155600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:51142800-51156200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:51142800-51156200	Weak transcription	Brain Germinal Matrix	brain
21	chr12:51143600-51155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:51143600-51156200	Weak transcription	Adipose Nuclei	Adipose
23	chr12:51143800-51156000	Weak transcription	Thymus	Thymus
24	chr12:51143800-51156200	Weak transcription	Fetal Lung	lung
25	chr12:51144000-51154200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:51144000-51154400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:51144000-51156200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:51144400-51156200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:51144600-51155800	Weak transcription	Liver	Liver
30	chr12:51144600-51156200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:51144600-51156200	Weak transcription	Brain Anterior Caudate	brain
32	chr12:51144600-51156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:51144600-51156800	Weak transcription	Lung	lung
34	chr12:51144800-51154400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:51144800-51154400	Weak transcription	Primary B cells from cord blood	blood
36	chr12:51144800-51156000	Weak transcription	Fetal Intestine Small	intestine
37	chr12:51144800-51156200	Weak transcription	Primary T cells from cord blood	blood
38	chr12:51144800-51156200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:51144800-51156200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:51144800-51156200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:51145000-51154200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:51145000-51156800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:51145400-51154000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:51145400-51154200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr12:51145400-51154200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:51145400-51154400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:51145400-51156200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:51145400-51156200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:51145400-51156200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:51145800-51155800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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