Variant report

Variant	nsv437729
Chromosome Location	chr12:22234058-22268523
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:14)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:22254309..22254859-chr12:22325837..22326339,2	MCF-7	breast:
2	chr12:22254683..22255197-chr12:22488123..22488913,2	MCF-7	breast:
3	chr12:22235755..22236324-chr12:22612919..22613626,2	MCF-7	breast:
4	chr12:22254001..22254637-chr12:22488215..22489048,2	MCF-7	breast:
5	chr12:22241159..22243992-chr12:22244769..22247704,2	K562	blood:
6	chr12:22253691..22254460-chr12:22596324..22596916,2	MCF-7	breast:
7	chr12:22235862..22236436-chr12:22596152..22596984,4	MCF-7	breast:
8	chr12:22236157..22237736-chr12:22238462..22241386,2	K562	blood:
9	chr12:22233451..22235429-chr12:22242866..22245840,2	K562	blood:
10	chr12:22233451..22235429-chr12:22242866..22245840,2	K562	blood:
11	chr12:22253611..22254718-chr12:22488160..22489046,5	MCF-7	breast:
12	chr12:22236157..22237736-chr12:22238462..22241386,2	K562	blood:
13	chr12:22241159..22243992-chr12:22244769..22247704,2	K562	blood:
14	chr12:22198301..22201550-chr12:22239429..22242736,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA1-2	chr12:22257039-22257123	NONHSAT027265
2	lnc-ST8SIA1-2	chr12:22240798-22240858	NONHSAT027265
3	lnc-ABCC9-1	chr12:22235320-22235624	NONHSAT027266
4	lnc-ABCC9-2	chr12:22260093-22260470	NONHSAT027267

No data

Variant related genes	Relation type
ENSG00000111726	chromatin interactions

Extended variants
information (count: 1073 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1073 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10841936	chr12:22234058-22234059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142637471	chr12:22234066-22234067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560238993	chr12:22234073-22234074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144162536	chr12:22234084-22234085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370803533	chr12:22234106-22234107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531963726	chr12:22234132-22234133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10841937	chr12:22234133-22234134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12582605	chr12:22234153-22234154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538118855	chr12:22234165-22234166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138177912	chr12:22234176-22234177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527344739	chr12:22234189-22234190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568154489	chr12:22234240-22234241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371247753	chr12:22234255-22234256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74611008	chr12:22234275-22234276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141860897	chr12:22234318-22234319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73254010	chr12:22234404-22234405	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558550609	chr12:22234428-22234429	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7299120	chr12:22234471-22234472	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115414216	chr12:22234501-22234502	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561286758	chr12:22234514-22234515	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs114579637	chr12:22234534-22234535	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372327625	chr12:22234554-22234555	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs57111710	chr12:22234560-22234561	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75405324	chr12:22234658-22234659	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77179837	chr12:22234686-22234687	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs549805513	chr12:22234730-22234731	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150640488	chr12:22234802-22234803	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574907680	chr12:22234844-22234845	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs116583032	chr12:22234848-22234849	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7299662	chr12:22234854-22234855	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548502296	chr12:22234878-22234879	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs67339960	chr12:22234879-22234880	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4390389	chr12:22234892-22234893	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11837693	chr12:22234944-22234945	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566825082	chr12:22234976-22234977	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538725354	chr12:22235014-22235015	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs79533958	chr12:22235026-22235027	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs200096526	chr12:22235042-22235043	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs2277390	chr12:22235077-22235078	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139806796	chr12:22235108-22235109	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs7303151	chr12:22235151-22235152	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs149820954	chr12:22235179-22235180	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs73254017	chr12:22235237-22235238	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374855119	chr12:22235238-22235239	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560757052	chr12:22235244-22235245	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs562809251	chr12:22235339-22235340	Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs182600731	chr12:22235357-22235358	Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs186655080	chr12:22235359-22235360	Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs575931598	chr12:22235437-22235438	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs151140369	chr12:22235454-22235455	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	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
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	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	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22203800-22235200	Weak transcription	Gastric	stomach
2	chr12:22233600-22234400	Weak transcription	K562	blood
3	chr12:22234400-22235400	Active TSS	K562	blood
4	chr12:22234400-22235600	Enhancers	Fetal Lung	lung
5	chr12:22234400-22235800	Enhancers	Stomach Mucosa	stomach
6	chr12:22234600-22234800	Enhancers	HepG2	liver
7	chr12:22234800-22235600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:22234800-22235800	Flanking Active TSS	HepG2	liver
9	chr12:22235000-22235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:22235000-22235800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:22235200-22235400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:22235200-22235800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:22235200-22235800	Enhancers	Gastric	stomach
14	chr12:22235400-22235600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:22235400-22235800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:22235400-22235800	Flanking Active TSS	K562	blood
17	chr12:22235800-22236000	Enhancers	Fetal Kidney	kidney
18	chr12:22235800-22236000	Enhancers	HepG2	liver
19	chr12:22235800-22236000	Enhancers	K562	blood
20	chr12:22241600-22242200	Enhancers	HMEC	breast
21	chr12:22241600-22242600	Enhancers	NHEK	skin
22	chr12:22241800-22242200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:22245600-22246800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:22246600-22246800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:22246800-22249800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:22249200-22254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:22252000-22254200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:22252400-22253000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:22253000-22254200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:22253600-22254000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:22253600-22255600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:22253600-22255800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:22253600-22256800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:22253800-22254200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:22253800-22255000	Enhancers	NHEK	skin
36	chr12:22253800-22255200	Enhancers	Primary T cells from cord blood	blood
37	chr12:22253800-22255400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:22253800-22255400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:22253800-22256400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:22254000-22254200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:22254000-22254800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:22254000-22254800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:22254000-22255000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr12:22254000-22255000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:22254000-22255200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:22254000-22255200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:22254000-22255200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:22254000-22255200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr12:22254000-22255400	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:22254000-22255400	Enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links