Variant report

Variant	nsv1046854
Chromosome Location	chr12:2235877-2258394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:2254060..2256040-chr12:2258955..2261902,2	MCF-7	breast:
2	chr12:2248506..2250279-chr12:2263999..2266926,2	MCF-7	breast:
3	chr12:2256847..2258377-chr12:2264743..2267283,2	MCF-7	breast:
4	chr12:2253016..2255096-chr12:2269264..2272000,2	MCF-7	breast:

Extended variants
information (count: 767 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549081670	chr12:2235902-2235903	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146171030	chr12:2235907-2235908	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531654448	chr12:2235988-2235989	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114709908	chr12:2236002-2236003	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571454695	chr12:2236032-2236033	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534109904	chr12:2236033-2236034	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1122864	chr12:2236042-2236043	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs117189819	chr12:2236132-2236133	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536972673	chr12:2236134-2236135	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187548283	chr12:2236185-2236186	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2159517	chr12:2236225-2236226	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147980528	chr12:2236330-2236331	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192319613	chr12:2236349-2236350	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561828865	chr12:2236407-2236408	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184905846	chr12:2236416-2236417	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577704533	chr12:2236431-2236432	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540022583	chr12:2236441-2236442	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560318715	chr12:2236443-2236444	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190498593	chr12:2236445-2236446	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552721736	chr12:2236453-2236454	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141643962	chr12:2236605-2236606	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150531714	chr12:2236687-2236688	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78945787	chr12:2236699-2236700	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551389573	chr12:2236729-2236730	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139522619	chr12:2236740-2236741	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117635063	chr12:2236777-2236778	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374078331	chr12:2236821-2236822	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547646836	chr12:2236823-2236824	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567848875	chr12:2236824-2236825	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536503391	chr12:2236841-2236842	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2238036	chr12:2236842-2236843	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs1005618	chr12:2236850-2236851	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113381436	chr12:2236855-2236856	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557805910	chr12:2236868-2236869	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546934075	chr12:2236878-2236879	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577638472	chr12:2236911-2236912	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539199838	chr12:2236932-2236933	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553646510	chr12:2236936-2236937	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144378203	chr12:2236946-2236947	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542461118	chr12:2236986-2236987	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562421371	chr12:2237004-2237005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575965773	chr12:2237013-2237014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147405064	chr12:2237019-2237020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565301472	chr12:2237061-2237062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139721619	chr12:2237142-2237143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551409015	chr12:2237200-2237201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192588937	chr12:2237289-2237290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145293696	chr12:2237296-2237297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530311463	chr12:2237439-2237440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145143302	chr12:2237443-2237444	Weak transcription 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:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2222400-2239000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:2222800-2236000	Weak transcription	Lung	lung
3	chr12:2223200-2250200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:2223600-2238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:2229800-2237200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:2229800-2245600	Weak transcription	Stomach Mucosa	stomach
7	chr12:2230400-2237800	Weak transcription	NHDF-Ad	bronchial
8	chr12:2231000-2238000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:2231200-2238000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:2231600-2240000	Weak transcription	NHLF	lung
11	chr12:2231800-2238000	Weak transcription	Osteobl	bone
12	chr12:2232000-2246800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:2232200-2236600	Weak transcription	Fetal Intestine Small	intestine
14	chr12:2232200-2254800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:2232400-2245400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:2233200-2236800	Enhancers	Fetal Heart	heart
17	chr12:2234200-2236400	Enhancers	Right Atrium	heart
18	chr12:2234200-2238000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:2234200-2247000	Weak transcription	Spleen	Spleen
20	chr12:2234400-2238000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:2234600-2236400	Genic enhancers	Fetal Stomach	stomach
22	chr12:2234800-2236400	Enhancers	Fetal Lung	lung
23	chr12:2235000-2236400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:2235000-2239200	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:2235200-2237200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr12:2235400-2236000	Enhancers	Fetal Brain Male	brain
27	chr12:2235400-2236200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr12:2235400-2237000	Enhancers	Left Ventricle	heart
29	chr12:2235400-2238000	Enhancers	Colon Smooth Muscle	Colon
30	chr12:2235800-2236000	Enhancers	Aorta	Aorta
31	chr12:2235800-2236000	Enhancers	Brain Angular Gyrus	brain
32	chr12:2235800-2236000	Enhancers	Fetal Thymus	thymus
33	chr12:2235800-2236400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:2235800-2236800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr12:2235800-2237000	Genic enhancers	Right Ventricle	heart
36	chr12:2236000-2236200	Enhancers	Lung	lung
37	chr12:2236000-2250000	Weak transcription	Aorta	Aorta
38	chr12:2236200-2236800	Weak transcription	Lung	lung
39	chr12:2236400-2236800	Weak transcription	Fetal Lung	lung
40	chr12:2236400-2237200	Weak transcription	Fetal Stomach	stomach
41	chr12:2236400-2238000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:2236400-2238000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:2236400-2247200	Weak transcription	Right Atrium	heart
44	chr12:2236800-2237000	Enhancers	Fetal Lung	lung
45	chr12:2236800-2237000	Enhancers	Lung	lung
46	chr12:2236800-2238000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:2236800-2245600	Weak transcription	Fetal Heart	heart
48	chr12:2237000-2237200	Enhancers	Right Ventricle	heart
49	chr12:2237000-2245400	Weak transcription	Left Ventricle	heart
50	chr12:2237000-2245600	Weak transcription	Lung	lung

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