Variant report

Variant	nsv557034
Chromosome Location	chr12:2226045-2251273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:2248506..2250279-chr12:2263999..2266926,2	MCF-7	breast:
2	chr12:2166299..2167006-chr12:2226935..2227452,2	MCF-7	breast:
3	chr12:2220570..2222962-chr12:2225663..2228502,2	MCF-7	breast:

Extended variants
information (count: 924 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:924 , 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	rs2299664	chr12:2226045-2226046	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552713145	chr12:2226046-2226047	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113991352	chr12:2226060-2226061	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528693949	chr12:2226072-2226073	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367939069	chr12:2226202-2226203	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548842099	chr12:2226232-2226233	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111789519	chr12:2226246-2226247	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139842968	chr12:2226279-2226280	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143258263	chr12:2226299-2226300	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569663946	chr12:2226330-2226331	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73603768	chr12:2226365-2226366	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146708761	chr12:2226402-2226403	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538308223	chr12:2226419-2226420	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111273230	chr12:2226436-2226437	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558236183	chr12:2226457-2226458	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140328978	chr12:2226487-2226488	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374920903	chr12:2226604-2226605	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534492274	chr12:2226620-2226621	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10848617	chr12:2226699-2226700	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528332257	chr12:2226721-2226722	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112796134	chr12:2226786-2226787	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185391498	chr12:2226794-2226795	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145056197	chr12:2226835-2226836	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149117517	chr12:2226858-2226859	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372886024	chr12:2226866-2226867	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559878908	chr12:2226922-2226923	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528632243	chr12:2226927-2226928	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548778227	chr12:2226937-2226938	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562329899	chr12:2226963-2226964	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531079790	chr12:2226975-2226976	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60250705	chr12:2227147-2227148	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114425567	chr12:2227177-2227178	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538234945	chr12:2227269-2227270	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4126711	chr12:2227311-2227312	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs111520377	chr12:2227342-2227343	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75384437	chr12:2227345-2227346	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139025532	chr12:2227428-2227429	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143055109	chr12:2227464-2227465	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376532623	chr12:2227491-2227492	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371025838	chr12:2227519-2227520	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557217529	chr12:2227526-2227527	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577104318	chr12:2227542-2227543	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546204635	chr12:2227570-2227571	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147056970	chr12:2227571-2227572	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113685952	chr12:2227572-2227573	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113085099	chr12:2227599-2227600	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562103830	chr12:2227611-2227612	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562622364	chr12:2227617-2227618	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116643594	chr12:2227627-2227628	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138426214	chr12:2227699-2227700	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2208400-2226600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:2211800-2229000	Weak transcription	Osteobl	bone
3	chr12:2217800-2229600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:2219000-2234000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:2220400-2228400	Weak transcription	NHDF-Ad	bronchial
6	chr12:2220600-2228400	Weak transcription	Ovary	ovary
7	chr12:2220800-2235400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:2221000-2226200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:2221000-2229000	Weak transcription	Brain Germinal Matrix	brain
10	chr12:2221200-2228200	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:2221600-2227400	Weak transcription	Fetal Lung	lung
12	chr12:2221800-2229600	Weak transcription	Fetal Brain Male	brain
13	chr12:2222000-2226600	Weak transcription	Fetal Intestine Small	intestine
14	chr12:2222000-2231200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:2222000-2235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:2222200-2226200	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:2222400-2239000	Weak transcription	Brain Anterior Caudate	brain
18	chr12:2222800-2236000	Weak transcription	Lung	lung
19	chr12:2223000-2226800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:2223000-2229000	Weak transcription	Esophagus	oesophagus
21	chr12:2223200-2250200	Weak transcription	Brain Substantia Nigra	brain
22	chr12:2223400-2226800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:2223400-2228400	Weak transcription	NHLF	lung
24	chr12:2223400-2229600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:2223400-2234000	Weak transcription	Spleen	Spleen
26	chr12:2223600-2226800	Weak transcription	Fetal Heart	heart
27	chr12:2223600-2227000	Weak transcription	Right Atrium	heart
28	chr12:2223600-2227600	Weak transcription	Aorta	Aorta
29	chr12:2223600-2238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:2224000-2226600	Strong transcription	Fetal Stomach	stomach
31	chr12:2224200-2226200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:2224400-2226200	Strong transcription	Colon Smooth Muscle	Colon
33	chr12:2224400-2227200	Genic enhancers	Left Ventricle	heart
34	chr12:2224400-2231000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:2224600-2227600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:2224600-2228400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:2224600-2231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:2224800-2226800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:2225000-2228800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:2225000-2229000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:2225200-2226600	Weak transcription	Right Ventricle	heart
42	chr12:2225400-2227600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:2225400-2227600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:2225400-2233800	Weak transcription	Fetal Brain Female	brain
45	chr12:2226200-2228000	Genic enhancers	Colon Smooth Muscle	Colon
46	chr12:2226200-2228600	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr12:2226200-2229000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr12:2226600-2227200	Genic enhancers	Right Ventricle	heart
49	chr12:2226600-2227600	Strong transcription	Fetal Intestine Small	intestine
50	chr12:2226600-2228000	Strong transcription	Brain Angular Gyrus	brain

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