Variant report

Variant	esv3418271
Chromosome Location	chr12:11170285-11173683
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	chr12:11009323..11011109-chr12:11168207..11170860,2	K562	blood:
2	chr12:11169301..11171201-chr12:11322573..11325255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111215	chromatin interactions
ENSG00000212127	chromatin interactions
ENSG00000256537	chromatin interactions
ENSG00000256712	chromatin interactions

Extended variants
information (count: 256 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565834969	chr12:11170292-11170293	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs145785458	chr12:11170320-11170321	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs149079853	chr12:11170334-11170335	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs376062871	chr12:11170345-11170346	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs369861697	chr12:11170431-11170432	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs114155243	chr12:11170452-11170453	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs536721027	chr12:11170466-11170467	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs146593446	chr12:11170476-11170477	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs543068912	chr12:11170483-11170484	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs140429903	chr12:11170566-11170567	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs201352379	chr12:11170579-11170580	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs539057664	chr12:11170583-11170584	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs73047126	chr12:11170589-11170590	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs141652757	chr12:11170591-11170592	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs72475464	chr12:11170611-11170612	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs572634289	chr12:11170681-11170682	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs541636026	chr12:11170700-11170701	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs561435356	chr12:11170723-11170724	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs563262154	chr12:11170728-11170729	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs543893695	chr12:11170737-11170738	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs188665692	chr12:11170738-11170739	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs10772418	chr12:11170743-11170744	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs552281788	chr12:11170771-11170772	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs559636806	chr12:11170814-11170815	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs374341720	chr12:11170830-11170831	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs10732561	chr12:11170837-11170838	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs181046913	chr12:11170863-11170864	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs567880638	chr12:11170870-11170871	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs200843846	chr12:11170898-11170899	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs201512547	chr12:11170912-11170913	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs536761265	chr12:11170914-11170915	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs371803599	chr12:11170929-11170930	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs113952772	chr12:11170969-11170970	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs199822276	chr12:11170989-11170990	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs550306970	chr12:11170996-11170997	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs200488809	chr12:11170997-11170998	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs570443177	chr12:11171002-11171003	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs201788272	chr12:11171036-11171037	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs559971773	chr12:11171038-11171039	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs149712079	chr12:11171062-11171063	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs7957791	chr12:11171069-11171070	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs535298537	chr12:11171072-11171073	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs6488339	chr12:11171073-11171074	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575038340	chr12:11171089-11171090	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs367842444	chr12:11171166-11171167	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs374585363	chr12:11171178-11171179	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs72475465	chr12:11171201-11171202	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs72475466	chr12:11171221-11171222	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111582311	chr12:11171228-11171229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371156438	chr12:11171249-11171250	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Bipolar disorder	19114987	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:11136400-11180200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:11136600-11180200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
6	chr12:11143400-11178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:11145400-11177600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:11147000-11178600	Weak transcription	Fetal Stomach	stomach
9	chr12:11147000-11185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:11147200-11171200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:11147200-11176200	Weak transcription	Aorta	Aorta
12	chr12:11147200-11180400	Weak transcription	Pancreas	Pancrea
13	chr12:11148400-11178200	Weak transcription	Dnd41	blood
14	chr12:11154200-11174200	Weak transcription	Primary B cells from cord blood	blood
15	chr12:11154200-11178000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:11154200-11178200	Weak transcription	A549	lung
17	chr12:11154200-11178800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:11159400-11182000	Weak transcription	NHEK	skin
19	chr12:11159600-11178200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:11161400-11178200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:11161400-11179200	Weak transcription	Fetal Kidney	kidney
22	chr12:11162400-11172800	Weak transcription	Fetal Brain Female	brain
23	chr12:11163400-11177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:11163400-11178000	Weak transcription	GM12878-XiMat	blood
25	chr12:11163600-11178800	Weak transcription	Ovary	ovary
26	chr12:11163800-11178000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:11164400-11178600	Weak transcription	Fetal Thymus	thymus
28	chr12:11164800-11171800	Weak transcription	Lung	lung
29	chr12:11165000-11180800	Weak transcription	HSMM	muscle
30	chr12:11165200-11170800	Enhancers	Brain Substantia Nigra	brain
31	chr12:11165400-11180200	Weak transcription	Esophagus	oesophagus
32	chr12:11165600-11174200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:11166000-11192000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:11166200-11210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:11166400-11170600	Enhancers	Brain Hippocampus Middle	brain
36	chr12:11166400-11170800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:11166600-11199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:11167000-11178200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:11167400-11201800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:11167600-11178000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:11167600-11180000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:11167800-11170800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:11167800-11178600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:11168000-11177600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:11168400-11170600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:11168800-11201000	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:11168800-11205800	Weak transcription	Osteobl	bone
48	chr12:11169000-11172000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:11169000-11177000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:11169000-11178200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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