Variant report

Variant	nsv1050133
Chromosome Location	chr12:12519319-12541869
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12515022..12517464-chr12:12520422..12522586,3	MCF-7	breast:
2	chr12:12531370..12534398-chr12:12711544..12717276,8	MCF-7	breast:
3	chr12:12519017..12521870-chr12:12849231..12851723,2	K562	blood:
4	chr12:12517934..12520693-chr12:12524024..12526072,2	MCF-7	breast:
5	chr12:12539967..12541683-chr12:12547549..12549266,2	MCF-7	breast:
6	chr12:12510200..12513346-chr12:12523638..12526361,3	K562	blood:
7	chr12:12519688..12522989-chr12:12524598..12527681,3	K562	blood:
8	chr12:12523614..12525450-chr12:12713286..12715120,2	MCF-7	breast:
9	chr12:12508565..12513346-chr12:12518905..12526361,9	K562	blood:
10	chr12:12509841..12511521-chr12:12518131..12519993,2	MCF-7	breast:
11	chr12:12529340..12531603-chr12:12711147..12714466,3	MCF-7	breast:
12	chr12:12517934..12520693-chr12:12524024..12526072,2	MCF-7	breast:
13	chr12:12509843..12512441-chr12:12520561..12523436,3	MCF-7	breast:
14	chr12:12538899..12542001-chr12:12714080..12716309,3	MCF-7	breast:
15	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
16	chr12:12531757..12533450-chr12:12857670..12859223,2	MCF-7	breast:
17	chr12:12524724..12527440-chr12:12848940..12850671,2	MCF-7	breast:
18	chr12:12525607..12527513-chrX:39488072..39490988,2	MCF-7	breast:
19	chr12:12522631..12525556-chr12:12525783..12528472,2	MCF-7	breast:
20	chr12:12529157..12530332-chr12:12857224..12858201,8	MCF-7	breast:
21	chr12:12509354..12513359-chr12:12517458..12522131,6	K562	blood:
22	chr12:12532395..12535127-chr12:12868296..12871166,2	MCF-7	breast:
23	chr12:12508497..12510863-chr12:12526548..12530591,3	MCF-7	breast:
24	chr12:12529698..12531231-chr12:12536062..12538015,2	K562	blood:
25	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
26	chr12:12529065..12530274-chr12:12856801..12858158,7	K562	blood:
27	chr12:12534486..12536460-chr12:12761134..12763160,2	MCF-7	breast:
28	chr12:12519688..12522989-chr12:12524598..12527681,3	K562	blood:
29	chr12:12529317..12530147-chr12:12808561..12809309,3	K562	blood:
30	chr12:12529613..12530179-chr12:12808665..12809480,2	MCF-7	breast:
31	chr12:12526769..12529809-chr12:12714703..12717328,3	K562	blood:
32	chr12:12531751..12533905-chr12:12536172..12537730,2	K562	blood:
33	chr12:12522631..12525556-chr12:12525783..12528472,2	MCF-7	breast:
34	chr12:12529636..12530613-chr12:12656069..12656681,3	MCF-7	breast:
35	chr12:12531073..12532698-chr12:12940131..12941983,2	K562	blood:
36	chr12:12518944..12521734-chr12:12847277..12849075,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111276	chromatin interactions
ENSG00000165714	chromatin interactions
ENSG00000111266	chromatin interactions
ENSG00000183150	chromatin interactions
ENSG00000205791	chromatin interactions

Extended variants
information (count: 940 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:940 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529432443	chr12:12519330-12519331	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536037971	chr12:12519396-12519397	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs113599095	chr12:12519499-12519500	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs79855176	chr12:12519504-12519505	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7316487	chr12:12519595-12519596	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558784745	chr12:12519600-12519601	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs58796296	chr12:12519623-12519624	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577267417	chr12:12519659-12519660	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs539849231	chr12:12519676-12519677	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544656823	chr12:12519686-12519687	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189902216	chr12:12519731-12519732	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544710514	chr12:12519745-12519746	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563169098	chr12:12519751-12519752	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575235977	chr12:12519763-12519764	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542177859	chr12:12519779-12519780	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113016585	chr12:12519800-12519801	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539485825	chr12:12519803-12519804	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs61923560	chr12:12519950-12519951	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570170875	chr12:12520024-12520025	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182566019	chr12:12520032-12520033	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564680294	chr12:12520071-12520072	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535562991	chr12:12520134-12520135	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531979589	chr12:12520172-12520173	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550190563	chr12:12520173-12520174	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568794671	chr12:12520214-12520215	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs142991198	chr12:12520236-12520237	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548209833	chr12:12520259-12520260	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs36085716	chr12:12520265-12520266	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs566615411	chr12:12520302-12520303	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533754775	chr12:12520307-12520308	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs559081140	chr12:12520332-12520333	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs77232975	chr12:12520394-12520395	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs538218073	chr12:12520396-12520397	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187211238	chr12:12520427-12520428	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs146146500	chr12:12520430-12520431	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375528850	chr12:12520461-12520462	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542465714	chr12:12520474-12520475	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554181400	chr12:12520486-12520487	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572591744	chr12:12520543-12520544	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs139041108	chr12:12520554-12520555	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200685903	chr12:12520601-12520602	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs74734996	chr12:12520602-12520603	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373019584	chr12:12520604-12520605	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370549519	chr12:12520652-12520653	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs529660567	chr12:12520674-12520675	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs116587337	chr12:12520737-12520738	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555393007	chr12:12520747-12520748	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs566691664	chr12:12520802-12520803	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs574311924	chr12:12520809-12520810	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554879787	chr12:12520874-12520875	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 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:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12510800-12519800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12510800-12527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:12510800-12528200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:12511000-12520600	Weak transcription	Left Ventricle	heart
5	chr12:12511200-12522200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:12511200-12525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
8	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
10	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
11	chr12:12511400-12540600	Weak transcription	HSMM	muscle
12	chr12:12511600-12520200	Weak transcription	Adipose Nuclei	Adipose
13	chr12:12511600-12530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:12511600-12532800	Weak transcription	Osteobl	bone
15	chr12:12511600-12540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:12511800-12520000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:12511800-12520800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:12511800-12526200	Weak transcription	Liver	Liver
20	chr12:12511800-12526800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:12511800-12532600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:12512000-12523200	Weak transcription	Fetal Heart	heart
23	chr12:12512000-12525200	Weak transcription	Fetal Thymus	thymus
24	chr12:12512000-12532600	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:12512000-12545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:12512200-12519800	Weak transcription	Primary T cells from cord blood	blood
27	chr12:12512200-12520200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:12512200-12520400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:12512200-12525800	Weak transcription	Fetal Intestine Large	intestine
30	chr12:12512200-12526000	Weak transcription	Small Intestine	intestine
31	chr12:12512200-12529800	Weak transcription	Fetal Kidney	kidney
32	chr12:12512200-12540400	Weak transcription	HMEC	breast
33	chr12:12512400-12520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:12512400-12521400	Weak transcription	Thymus	Thymus
35	chr12:12512400-12525600	Weak transcription	HepG2	liver
36	chr12:12512400-12526400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:12512400-12540600	Weak transcription	Psoas Muscle	Psoas
38	chr12:12512800-12525800	Weak transcription	K562	blood
39	chr12:12512800-12532600	Weak transcription	Hela-S3	cervix
40	chr12:12513000-12532600	Weak transcription	GM12878-XiMat	blood
41	chr12:12513200-12532400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:12514200-12521200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:12515200-12519800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:12516200-12537600	Weak transcription	Dnd41	blood
45	chr12:12516400-12520600	Weak transcription	Ovary	ovary
46	chr12:12516400-12521200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:12516400-12529800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:12516400-12535200	Weak transcription	Lung	lung
49	chr12:12516400-12540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:12516600-12525000	Weak transcription	Fetal Muscle Leg	muscle

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