Variant report

Variant	nsv1041632
Chromosome Location	chr12:2230012-2257585
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	chr12:2253016..2255096-chr12:2269264..2272000,2	MCF-7	breast:
3	chr12:2256847..2258377-chr12:2264743..2267283,2	MCF-7	breast:
4	chr12:2248506..2250279-chr12:2263999..2266926,2	MCF-7	breast:

Extended variants
information (count: 983 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192496175	chr12:2230023-2230024	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560244454	chr12:2230024-2230025	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112396971	chr12:2230029-2230030	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs141529757	chr12:2230044-2230045	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1558322	chr12:2230055-2230056	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs112002742	chr12:2230192-2230193	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113754340	chr12:2230242-2230243	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1558321	chr12:2230320-2230321	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs80109457	chr12:2230335-2230336	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571323184	chr12:2230378-2230379	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75449476	chr12:2230379-2230380	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147040913	chr12:2230419-2230420	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567795781	chr12:2230422-2230423	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559030583	chr12:2230435-2230436	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536440448	chr12:2230454-2230455	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369212191	chr12:2230465-2230466	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556754218	chr12:2230547-2230548	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527317583	chr12:2230560-2230561	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138370140	chr12:2230578-2230579	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77998681	chr12:2230596-2230597	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557742796	chr12:2230615-2230616	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577713465	chr12:2230679-2230680	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143319159	chr12:2230682-2230683	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553575867	chr12:2230686-2230687	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373277074	chr12:2230691-2230692	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572744324	chr12:2230692-2230693	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371531365	chr12:2230694-2230695	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571655033	chr12:2230705-2230706	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375176077	chr12:2230707-2230708	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369405742	chr12:2230714-2230715	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142617140	chr12:2230716-2230717	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73603770	chr12:2230813-2230814	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116832173	chr12:2230815-2230816	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527677037	chr12:2230819-2230820	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114656205	chr12:2230825-2230826	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184881691	chr12:2230837-2230838	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530242881	chr12:2230859-2230860	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550081321	chr12:2230954-2230955	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570270230	chr12:2230955-2230956	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539290294	chr12:2230989-2230990	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2239133	chr12:2230996-2230997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141546118	chr12:2231024-2231025	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533753734	chr12:2231031-2231032	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553757890	chr12:2231116-2231117	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573626634	chr12:2231180-2231181	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536362075	chr12:2231196-2231197	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188104628	chr12:2231229-2231230	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs377454467	chr12:2231231-2231232	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs368952526	chr12:2231261-2231262	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575835812	chr12:2231275-2231276	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats	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:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2219000-2234000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:2220800-2235400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:2222000-2231200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:2222000-2235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:2222400-2239000	Weak transcription	Brain Anterior Caudate	brain
6	chr12:2222800-2236000	Weak transcription	Lung	lung
7	chr12:2223200-2250200	Weak transcription	Brain Substantia Nigra	brain
8	chr12:2223400-2234000	Weak transcription	Spleen	Spleen
9	chr12:2223600-2238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:2224400-2231000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:2224600-2231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:2225400-2233800	Weak transcription	Fetal Brain Female	brain
13	chr12:2226800-2231200	Enhancers	Rectal Smooth Muscle	rectum
14	chr12:2227400-2231600	Enhancers	Fetal Lung	lung
15	chr12:2227600-2230600	Enhancers	Aorta	Aorta
16	chr12:2227800-2231800	Weak transcription	NH-A	brain
17	chr12:2227800-2235800	Weak transcription	Fetal Kidney	kidney
18	chr12:2228000-2230200	Enhancers	Fetal Stomach	stomach
19	chr12:2228000-2230800	Enhancers	Colon Smooth Muscle	Colon
20	chr12:2228000-2234200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:2228000-2235800	Weak transcription	Brain Angular Gyrus	brain
22	chr12:2228200-2230400	Enhancers	Fetal Muscle Leg	muscle
23	chr12:2228400-2230400	Enhancers	Ovary	ovary
24	chr12:2228400-2230400	Enhancers	NHDF-Ad	bronchial
25	chr12:2228400-2232000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:2228600-2235200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:2228800-2234200	Weak transcription	Right Atrium	heart
28	chr12:2229000-2231800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:2229200-2231200	Weak transcription	Fetal Intestine Small	intestine
30	chr12:2229400-2230400	Enhancers	Fetal Heart	heart
31	chr12:2229400-2230600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr12:2229600-2230400	Genic enhancers	Left Ventricle	heart
33	chr12:2229600-2231800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:2229800-2230200	Enhancers	NHLF	lung
35	chr12:2229800-2230400	Enhancers	Right Ventricle	heart
36	chr12:2229800-2230600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:2229800-2231800	Strong transcription	Osteobl	bone
38	chr12:2229800-2232000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:2229800-2237200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:2229800-2245600	Weak transcription	Stomach Mucosa	stomach
41	chr12:2230000-2230200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr12:2230000-2233200	Weak transcription	Fetal Brain Male	brain
43	chr12:2230200-2230600	Genic enhancers	NHLF	lung
44	chr12:2230200-2230800	Enhancers	Stomach Smooth Muscle	stomach
45	chr12:2230200-2231600	Genic enhancers	Fetal Stomach	stomach
46	chr12:2230400-2231800	Strong transcription	Left Ventricle	heart
47	chr12:2230400-2232600	Weak transcription	Ovary	ovary
48	chr12:2230400-2233200	Weak transcription	Fetal Heart	heart
49	chr12:2230400-2233800	Weak transcription	Right Ventricle	heart
50	chr12:2230400-2237800	Weak transcription	NHDF-Ad	bronchial

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