Variant report

Variant	nsv522586
Chromosome Location	chr12:4688634-4691682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4688558..4689492-chr12:4866939..4867957,4	MCF-7	breast:
2	chr12:4671177..4672797-chr12:4687364..4690356,2	K562	blood:
3	chr12:4671214..4672797-chr12:4688856..4690993,2	K562	blood:

Variant related genes	Relation type
ENSG00000010219	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10492054	chr12:4688634-4688635	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs717568	chr12:4688720-4688721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575702867	chr12:4688811-4688812	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79998731	chr12:4688855-4688856	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77748202	chr12:4688857-4688858	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76110316	chr12:4688858-4688859	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184316422	chr12:4688892-4688893	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544802980	chr12:4688945-4688946	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564393347	chr12:4688958-4688959	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533490741	chr12:4688975-4688976	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546719466	chr12:4688999-4689000	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557232216	chr12:4689006-4689007	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4766257	chr12:4689013-4689014	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs541823052	chr12:4689022-4689023	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529293318	chr12:4689029-4689030	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561558826	chr12:4689030-4689031	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548032015	chr12:4689032-4689033	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114672474	chr12:4689033-4689034	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs66572449	chr12:4689051-4689052	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs397750187	chr12:4689053-4689054	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370605683	chr12:4689054-4689055	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536810193	chr12:4689109-4689110	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189987666	chr12:4689123-4689124	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112950713	chr12:4689138-4689139	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181171865	chr12:4689192-4689193	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139037177	chr12:4689254-4689255	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546649796	chr12:4689287-4689288	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187026235	chr12:4689336-4689337	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs141573755	chr12:4689345-4689346	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555743785	chr12:4689370-4689371	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs55803053	chr12:4689384-4689385	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575912297	chr12:4689405-4689406	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544453716	chr12:4689433-4689434	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564305874	chr12:4689487-4689488	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558310949	chr12:4689496-4689497	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs578138720	chr12:4689508-4689509	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540324731	chr12:4689599-4689600	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537031216	chr12:4689648-4689649	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150516885	chr12:4689668-4689669	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190337856	chr12:4689731-4689732	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138373702	chr12:4689734-4689735	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542627251	chr12:4689747-4689748	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561805759	chr12:4689796-4689797	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530810482	chr12:4689877-4689878	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556814901	chr12:4689913-4689914	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79980821	chr12:4689963-4689964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570618074	chr12:4689964-4689965	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570521121	chr12:4689976-4689977	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74060048	chr12:4689977-4689978	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs539303900	chr12:4690020-4690021	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4673400-4692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:4679000-4688800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:4682800-4699600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:4687800-4690200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:4687800-4690600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:4688400-4689600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:4688400-4689600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:4688600-4689000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:4688600-4689400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:4688600-4689800	Enhancers	Fetal Muscle Leg	muscle
11	chr12:4688600-4690200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:4688600-4690200	Enhancers	HUVEC	blood vessel
13	chr12:4688600-4690400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:4688600-4691000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:4688800-4689000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:4688800-4689400	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:4689000-4689400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:4689000-4689600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:4689000-4690400	Enhancers	Spleen	Spleen
20	chr12:4689000-4691000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:4689200-4689800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:4689200-4689800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr12:4689200-4690400	Enhancers	Placenta	Placenta
24	chr12:4689200-4691000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:4689400-4689600	Enhancers	Liver	Liver
26	chr12:4689400-4690600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:4689400-4698800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:4689800-4690200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:4689800-4695600	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:4690200-4690600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:4690400-4691800	Weak transcription	Spleen	Spleen
32	chr12:4690400-4696600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:4691000-4693200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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