Variant report

Variant	nsv975450
Chromosome Location	chr12:11251359-11258164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:11257042-11257094	GM20000	blood:	n/a	n/a
2	KAP1	chr12:11258085-11258322	K562	blood:	n/a	n/a
3	MAFK	chr12:11254181-11254247	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:11253951-11254012	Gliobla	brain:	n/a	n/a
5	POLR2A	chr12:11253056-11253167	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11237724..11239418-chr12:11252570..11254241,2	MCF-7	breast:
2	chr12:11253040..11255708-chr12:11259363..11262255,2	K562	blood:

Variant related genes	Relation type
ENSG00000256400	TF binding region

Extended variants
information (count: 305 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553625691	chr12:11251392-11251393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs573441909	chr12:11251401-11251402	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs138738513	chr12:11251429-11251430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs114311467	chr12:11251433-11251434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535507751	chr12:11251440-11251441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575692948	chr12:11251461-11251462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs149371180	chr12:11251463-11251464	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2708365	chr12:11251476-11251477	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs532747081	chr12:11251494-11251495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558090190	chr12:11251515-11251516	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs577517280	chr12:11251528-11251529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2708364	chr12:11251560-11251561	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs559929104	chr12:11251690-11251691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs2600334	chr12:11251705-11251706	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs73264493	chr12:11251731-11251732	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562490262	chr12:11251751-11251752	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs531425449	chr12:11251768-11251769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs7296803	chr12:11251774-11251775	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571235708	chr12:11251865-11251866	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74062437	chr12:11251874-11251875	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571928531	chr12:11251884-11251885	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2600335	chr12:11251920-11251921	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs567152557	chr12:11251937-11251938	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536105083	chr12:11251966-11251967	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35798059	chr12:11251976-11251977	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146008116	chr12:11251977-11251978	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72261032	chr12:11251978-11251979	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71051565	chr12:11251980-11251981	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187636254	chr12:11252002-11252003	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573966206	chr12:11252019-11252020	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569263260	chr12:11252028-11252029	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538288999	chr12:11252029-11252030	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192702355	chr12:11252054-11252055	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2600336	chr12:11252082-11252083	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs139913438	chr12:11252093-11252094	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141755228	chr12:11252131-11252132	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573595260	chr12:11252150-11252151	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542496971	chr12:11252154-11252155	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544134767	chr12:11252165-11252166	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562661499	chr12:11252203-11252204	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531329643	chr12:11252211-11252212	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545054625	chr12:11252227-11252228	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564958047	chr12:11252298-11252299	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201483367	chr12:11252308-11252309	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4763622	chr12:11252321-11252322	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs146264624	chr12:11252353-11252354	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577170651	chr12:11252374-11252375	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370838522	chr12:11252384-11252385	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559433153	chr12:11252389-11252390	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528245877	chr12:11252396-11252397	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11203800-11261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:11205800-11269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:11208600-11259600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:11218200-11256800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:11221200-11259600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:11225200-11261000	Weak transcription	Fetal Stomach	stomach
7	chr12:11233800-11252200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:11234400-11261200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:11234400-11261400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:11237200-11256400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:11237200-11262200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:11239200-11283600	Weak transcription	Fetal Thymus	thymus
13	chr12:11239600-11261600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:11239800-11261400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:11240200-11253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:11241800-11259400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:11242000-11257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:11244800-11261400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:11245200-11286000	Weak transcription	Ovary	ovary
20	chr12:11246600-11251800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:11249400-11255600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:11249600-11261600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:11249800-11253800	Weak transcription	Fetal Intestine Large	intestine
24	chr12:11249800-11261600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:11250600-11255600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:11250800-11251400	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr12:11250800-11251400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr12:11250800-11254000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:11251000-11256600	Weak transcription	Fetal Lung	lung
30	chr12:11251000-11276200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:11251200-11251400	ZNF genes & repeats	A549	lung
32	chr12:11251200-11259600	Weak transcription	Thymus	Thymus
33	chr12:11251200-11269800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:11251400-11252600	Weak transcription	Primary T cells from cord blood	blood
35	chr12:11251400-11259200	Weak transcription	Primary B cells from cord blood	blood
36	chr12:11251400-11259600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:11251400-11260000	Weak transcription	A549	lung
38	chr12:11251800-11252000	Enhancers	Left Ventricle	heart
39	chr12:11251800-11252400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
40	chr12:11251800-11263200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:11252000-11252400	Enhancers	Psoas Muscle	Psoas
42	chr12:11252000-11255400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:11252000-11261400	Weak transcription	Left Ventricle	heart
44	chr12:11252200-11252800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr12:11252200-11258800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:11252200-11274800	Weak transcription	HSMM	muscle
47	chr12:11252400-11259600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:11252400-11261400	Weak transcription	Psoas Muscle	Psoas
49	chr12:11252600-11261200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:11252800-11253000	Enhancers	Skeletal Muscle Female	skeletal muscle

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