Variant report

Variant	nsv557481
Chromosome Location	chr12:11162991-11164751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11153714..11156559-chr12:11162296..11164278,2	MCF-7	breast:
2	chr12:11158423..11160257-chr12:11164352..11165951,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4763606	chr12:11162991-11162992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551624874	chr12:11162994-11162995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531756375	chr12:11163011-11163012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4763607	chr12:11163012-11163013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs547961020	chr12:11163023-11163024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567687387	chr12:11163029-11163030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4763608	chr12:11163058-11163059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs386760333	chr12:11163111-11163112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4763610	chr12:11163140-11163141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs538941379	chr12:11163143-11163144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560097621	chr12:11163182-11163183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375631633	chr12:11163271-11163272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572370956	chr12:11163319-11163320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10626938	chr12:11163418-11163419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs33986464	chr12:11163419-11163420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376513678	chr12:11163494-11163495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534559394	chr12:11163497-11163498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554736376	chr12:11163562-11163563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527252793	chr12:11163579-11163580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574477964	chr12:11163612-11163613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184712183	chr12:11163617-11163618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556556439	chr12:11163647-11163648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576389099	chr12:11163648-11163649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552546732	chr12:11163662-11163663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545299777	chr12:11163670-11163671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565278179	chr12:11163710-11163711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527970321	chr12:11163736-11163737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189303246	chr12:11163752-11163753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561503171	chr12:11163755-11163756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532498630	chr12:11163766-11163767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181875303	chr12:11163770-11163771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552195149	chr12:11163773-11163774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7311538	chr12:11163797-11163798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs570066017	chr12:11163806-11163807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532594787	chr12:11163833-11163834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371403297	chr12:11163846-11163847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7311652	chr12:11163849-11163850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186911333	chr12:11163880-11163881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375599687	chr12:11163889-11163890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7297768	chr12:11163893-11163894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs7301147	chr12:11163946-11163947	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs568213874	chr12:11163967-11163968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536759513	chr12:11163971-11163972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374029759	chr12:11164057-11164058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576623608	chr12:11164058-11164059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58622223	chr12:11164092-11164093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7304447	chr12:11164102-11164103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs545428260	chr12:11164164-11164165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552528153	chr12:11164178-11164179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7304579	chr12:11164195-11164196	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:97)

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
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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 lymphoblastic leukemia	19100363	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:11122000-11170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:11122200-11168000	Weak transcription	HUVEC	blood vessel
4	chr12:11129200-11167600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:11134800-11166800	Weak transcription	NHDF-Ad	bronchial
6	chr12:11136400-11180200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:11136600-11180200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
10	chr12:11143400-11167600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:11143400-11178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:11145400-11177600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:11146200-11167400	Weak transcription	Fetal Intestine Large	intestine
14	chr12:11147000-11165200	Weak transcription	Esophagus	oesophagus
15	chr12:11147000-11166400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:11147000-11168400	Weak transcription	Liver	Liver
17	chr12:11147000-11178600	Weak transcription	Fetal Stomach	stomach
18	chr12:11147000-11185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:11147200-11168600	Weak transcription	Spleen	Spleen
20	chr12:11147200-11169200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:11147200-11171200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:11147200-11176200	Weak transcription	Aorta	Aorta
23	chr12:11147200-11180400	Weak transcription	Pancreas	Pancrea
24	chr12:11148400-11178200	Weak transcription	Dnd41	blood
25	chr12:11149000-11168600	Weak transcription	Left Ventricle	heart
26	chr12:11154000-11169000	Weak transcription	Primary T cells from cord blood	blood
27	chr12:11154200-11167400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:11154200-11168000	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:11154200-11174200	Weak transcription	Primary B cells from cord blood	blood
30	chr12:11154200-11178000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:11154200-11178200	Weak transcription	A549	lung
32	chr12:11154200-11178800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:11154400-11168000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:11159400-11168600	Weak transcription	Gastric	stomach
35	chr12:11159400-11182000	Weak transcription	NHEK	skin
36	chr12:11159600-11178200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:11160400-11163800	Weak transcription	Psoas Muscle	Psoas
38	chr12:11160800-11165800	Weak transcription	NH-A	brain
39	chr12:11161400-11178200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:11161400-11179200	Weak transcription	Fetal Kidney	kidney
41	chr12:11162400-11172800	Weak transcription	Fetal Brain Female	brain
42	chr12:11162600-11167800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:11163400-11177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:11163400-11178000	Weak transcription	GM12878-XiMat	blood
45	chr12:11163600-11178800	Weak transcription	Ovary	ovary
46	chr12:11163800-11164000	Enhancers	Brain Substantia Nigra	brain
47	chr12:11163800-11178000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:11164000-11165200	Weak transcription	Brain Substantia Nigra	brain
49	chr12:11164400-11178600	Weak transcription	Fetal Thymus	thymus
50	chr12:11164600-11168200	Weak transcription	Stomach Mucosa	stomach

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