Variant report

Variant	nsv818894
Chromosome Location	chr12:12530718-12541869
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
2	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
3	chr12:12531757..12533450-chr12:12857670..12859223,2	MCF-7	breast:
4	chr12:12539967..12541683-chr12:12547549..12549266,2	MCF-7	breast:
5	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
6	chr12:12532395..12535127-chr12:12868296..12871166,2	MCF-7	breast:
7	chr12:12534486..12536460-chr12:12761134..12763160,2	MCF-7	breast:
8	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
9	chr12:12531370..12534398-chr12:12711544..12717276,8	MCF-7	breast:
10	chr12:12529340..12531603-chr12:12711147..12714466,3	MCF-7	breast:
11	chr12:12531073..12532698-chr12:12940131..12941983,2	K562	blood:
12	chr12:12538899..12542001-chr12:12714080..12716309,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111266	chromatin interactions
ENSG00000111276	chromatin interactions

Extended variants
information (count: 448 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7136930	chr12:12530718-12530719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187699219	chr12:12530728-12530729	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112294146	chr12:12530789-12530790	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534451781	chr12:12530826-12530827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559331063	chr12:12530831-12530832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577362563	chr12:12530860-12530861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191735391	chr12:12530888-12530889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371942397	chr12:12530929-12530930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563380193	chr12:12530958-12530959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575215704	chr12:12530995-12530996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542334469	chr12:12531017-12531018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560500946	chr12:12531018-12531019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528116616	chr12:12531025-12531026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562169197	chr12:12531028-12531029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187421676	chr12:12531076-12531077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532322241	chr12:12531077-12531078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192169878	chr12:12531157-12531158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574228952	chr12:12531173-12531174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536700524	chr12:12531175-12531176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548707911	chr12:12531190-12531191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538344486	chr12:12531220-12531221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566860922	chr12:12531239-12531240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113330976	chr12:12531242-12531243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs60914697	chr12:12531274-12531275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559180372	chr12:12531275-12531276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577501357	chr12:12531282-12531283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185405872	chr12:12531283-12531284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556453181	chr12:12531300-12531301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574978890	chr12:12531301-12531302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542305900	chr12:12531370-12531371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142629584	chr12:12531375-12531376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190605648	chr12:12531418-12531419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182322743	chr12:12531468-12531469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541755933	chr12:12531471-12531472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs386760474	chr12:12531479-12531480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371975000	chr12:12531491-12531492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7133837	chr12:12531501-12531502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs78036847	chr12:12531514-12531515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562506544	chr12:12531552-12531553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12297259	chr12:12531555-12531556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184364962	chr12:12531568-12531569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115171305	chr12:12531622-12531623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566997370	chr12:12531654-12531655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188285495	chr12:12531675-12531676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552253127	chr12:12531690-12531691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570844870	chr12:12531725-12531726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538108940	chr12:12531758-12531759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556825676	chr12:12531767-12531768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568313989	chr12:12531772-12531773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146036494	chr12:12531787-12531788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	21088497	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
2	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
4	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
5	chr12:12511400-12540600	Weak transcription	HSMM	muscle
6	chr12:12511600-12532800	Weak transcription	Osteobl	bone
7	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:12511800-12532600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:12512000-12532600	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:12512000-12545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:12512200-12540400	Weak transcription	HMEC	breast
13	chr12:12512400-12540600	Weak transcription	Psoas Muscle	Psoas
14	chr12:12512800-12532600	Weak transcription	Hela-S3	cervix
15	chr12:12513000-12532600	Weak transcription	GM12878-XiMat	blood
16	chr12:12513200-12532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:12516200-12537600	Weak transcription	Dnd41	blood
18	chr12:12516400-12535200	Weak transcription	Lung	lung
19	chr12:12516400-12540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:12518200-12531800	Weak transcription	Fetal Brain Female	brain
21	chr12:12519200-12531400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:12519200-12532200	Weak transcription	Placenta	Placenta
23	chr12:12519200-12532600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:12519200-12549800	Weak transcription	Aorta	Aorta
25	chr12:12519400-12532600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:12519400-12537400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:12519600-12540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:12519800-12537600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:12520200-12535000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:12520800-12532800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:12521000-12532600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:12521000-12532600	Weak transcription	Brain Anterior Caudate	brain
33	chr12:12521000-12532600	Weak transcription	Ovary	ovary
34	chr12:12521000-12538000	Weak transcription	Left Ventricle	heart
35	chr12:12521200-12532600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:12521800-12531400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:12521800-12542800	Weak transcription	Adipose Nuclei	Adipose
38	chr12:12521800-12556200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:12522400-12532600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:12522400-12532800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:12523400-12532600	Weak transcription	NHLF	lung
42	chr12:12525400-12550200	Weak transcription	Fetal Stomach	stomach
43	chr12:12526000-12541600	Weak transcription	Brain Germinal Matrix	brain
44	chr12:12526200-12532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:12526400-12532000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:12526400-12532200	Weak transcription	Pancreas	Pancrea
47	chr12:12526400-12532400	Weak transcription	Primary T cells from cord blood	blood
48	chr12:12526400-12532600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:12526400-12535400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:12526400-12537800	Weak transcription	Fetal Muscle Trunk	muscle

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