Variant report

Variant	nsv557038
Chromosome Location	chr12:2233023-2257495
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	chr12:2253016..2255096-chr12:2269264..2272000,2	MCF-7	breast:
4	chr12:2256847..2258377-chr12:2264743..2267283,2	MCF-7	breast:

Extended variants
information (count: 855 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4765898	chr12:2233023-2233024	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547476630	chr12:2233024-2233025	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554504313	chr12:2233071-2233072	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186425583	chr12:2233113-2233114	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537365220	chr12:2233116-2233117	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191244940	chr12:2233125-2233126	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181696271	chr12:2233145-2233146	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373730084	chr12:2233167-2233168	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550882120	chr12:2233171-2233172	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569316184	chr12:2233242-2233243	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553499892	chr12:2233243-2233244	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530349542	chr12:2233264-2233265	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201785662	chr12:2233276-2233277	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36202591	chr12:2233309-2233310	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60393439	chr12:2233311-2233312	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112586389	chr12:2233313-2233314	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111301192	chr12:2233314-2233315	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113700521	chr12:2233315-2233316	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548368067	chr12:2233424-2233425	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79188959	chr12:2233491-2233492	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367560838	chr12:2233501-2233502	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565545835	chr12:2233508-2233509	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147670686	chr12:2233522-2233523	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564483500	chr12:2233530-2233531	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566998706	chr12:2233532-2233533	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531979827	chr12:2233534-2233535	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375360674	chr12:2233537-2233538	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552579724	chr12:2233562-2233563	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559385501	chr12:2233578-2233579	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11608656	chr12:2233600-2233601	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs113991917	chr12:2233604-2233605	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534046010	chr12:2233632-2233633	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528190758	chr12:2233635-2233636	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535088607	chr12:2233650-2233651	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140956967	chr12:2233693-2233694	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs568166297	chr12:2233705-2233706	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537301307	chr12:2233707-2233708	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs550884525	chr12:2233712-2233713	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185874750	chr12:2233719-2233720	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs2283284	chr12:2233761-2233762	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553125692	chr12:2233762-2233763	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573252473	chr12:2233840-2233841	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535595901	chr12:2233857-2233858	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369602934	chr12:2233871-2233872	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575439239	chr12:2233874-2233875	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544453153	chr12:2233914-2233915	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111952548	chr12:2233926-2233927	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs2239136	chr12:2233929-2233930	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150217777	chr12:2233933-2233934	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375953942	chr12:2234003-2234004	Weak transcription Strong transcription Enhancers 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:354 , 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	chr12:2222000-2235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:2222400-2239000	Weak transcription	Brain Anterior Caudate	brain
5	chr12:2222800-2236000	Weak transcription	Lung	lung
6	chr12:2223200-2250200	Weak transcription	Brain Substantia Nigra	brain
7	chr12:2223400-2234000	Weak transcription	Spleen	Spleen
8	chr12:2223600-2238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:2225400-2233800	Weak transcription	Fetal Brain Female	brain
10	chr12:2227800-2235800	Weak transcription	Fetal Kidney	kidney
11	chr12:2228000-2234200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:2228000-2235800	Weak transcription	Brain Angular Gyrus	brain
13	chr12:2228600-2235200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:2228800-2234200	Weak transcription	Right Atrium	heart
15	chr12:2229800-2237200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:2229800-2245600	Weak transcription	Stomach Mucosa	stomach
17	chr12:2230000-2233200	Weak transcription	Fetal Brain Male	brain
18	chr12:2230400-2233200	Weak transcription	Fetal Heart	heart
19	chr12:2230400-2233800	Weak transcription	Right Ventricle	heart
20	chr12:2230400-2237800	Weak transcription	NHDF-Ad	bronchial
21	chr12:2230600-2235200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:2231000-2238000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:2231200-2233600	Weak transcription	Aorta	Aorta
24	chr12:2231200-2235000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:2231200-2238000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:2231600-2234200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:2231600-2234800	Weak transcription	Fetal Lung	lung
28	chr12:2231600-2240000	Weak transcription	NHLF	lung
29	chr12:2231800-2233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:2231800-2233600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:2231800-2238000	Weak transcription	Osteobl	bone
32	chr12:2232000-2233600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:2232000-2246800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:2232200-2233600	Weak transcription	Fetal Stomach	stomach
35	chr12:2232200-2236600	Weak transcription	Fetal Intestine Small	intestine
36	chr12:2232200-2254800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:2232400-2245400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:2232600-2234400	Enhancers	Left Ventricle	heart
39	chr12:2232800-2233200	Genic enhancers	Stomach Smooth Muscle	stomach
40	chr12:2232800-2233800	Genic enhancers	Colon Smooth Muscle	Colon
41	chr12:2233200-2233400	Enhancers	Fetal Brain Male	brain
42	chr12:2233200-2234400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:2233200-2236800	Enhancers	Fetal Heart	heart
44	chr12:2233400-2235400	Weak transcription	Fetal Brain Male	brain
45	chr12:2233600-2234200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:2233600-2234400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:2233600-2234400	ZNF genes & repeats	Fetal Stomach	stomach
48	chr12:2233600-2235000	Strong transcription	Aorta	Aorta
49	chr12:2233600-2235800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:2233800-2234200	Strong transcription	Colon Smooth Muscle	Colon

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