Variant report

Variant	nsv556884
Chromosome Location	chr12:621303-622322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:622277..623146-chr12:632963..633980,6	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376691390	chr12:621309-621310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143536331	chr12:621310-621311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138659040	chr12:621316-621317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374956959	chr12:621323-621324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369104663	chr12:621338-621339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574130728	chr12:621343-621344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372810891	chr12:621344-621345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376842082	chr12:621345-621346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554856780	chr12:621347-621348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369702638	chr12:621352-621353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201161979	chr12:621353-621354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202062782	chr12:621358-621359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147485320	chr12:621391-621392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542863258	chr12:621406-621407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575986954	chr12:621409-621410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574443751	chr12:621417-621418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553000023	chr12:621425-621426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568412090	chr12:621427-621428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543413523	chr12:621490-621491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564982919	chr12:621526-621527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577253815	chr12:621563-621564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140090392	chr12:621577-621578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541545460	chr12:621582-621583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111211619	chr12:621583-621584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200237761	chr12:621592-621593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559256861	chr12:621595-621596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200128725	chr12:621605-621606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562929260	chr12:621609-621610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529917970	chr12:621623-621624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548466733	chr12:621628-621629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114470253	chr12:621635-621636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144054555	chr12:621654-621655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552193219	chr12:621688-621689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201989773	chr12:621726-621727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570462344	chr12:621728-621729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201436436	chr12:621759-621760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201406579	chr12:621760-621761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370363544	chr12:621786-621787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374671830	chr12:621793-621794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377387028	chr12:621799-621800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547585240	chr12:621801-621802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370817839	chr12:621870-621871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151030473	chr12:621871-621872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140614089	chr12:621921-621922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189974117	chr12:621928-621929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143741106	chr12:621936-621937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142234626	chr12:621942-621943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200785389	chr12:621984-621985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150053413	chr12:621991-621992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202156881	chr12:622047-622048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
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
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	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
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:619000-621400	Weak transcription	Lung	lung
2	chr12:619000-622200	Weak transcription	Placenta	Placenta
3	chr12:619400-626000	Enhancers	Stomach Mucosa	stomach
4	chr12:619600-621800	Weak transcription	Gastric	stomach
5	chr12:619600-621800	Weak transcription	Right Atrium	heart
6	chr12:619800-622400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:619800-622600	Weak transcription	Right Ventricle	heart
8	chr12:619800-628000	Weak transcription	Brain Anterior Caudate	brain
9	chr12:620000-622800	Weak transcription	Left Ventricle	heart
10	chr12:620200-622400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:620200-633200	Weak transcription	NHEK	skin
12	chr12:620400-637600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:620400-638200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:620600-622200	Weak transcription	Fetal Heart	heart
15	chr12:620600-630600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:620600-632800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:620600-636600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:620600-637800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:620800-623000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:620800-648000	Weak transcription	Pancreas	Pancrea
21	chr12:621400-621600	Enhancers	Lung	lung
22	chr12:621800-622400	Enhancers	Right Atrium	heart
23	chr12:621800-622800	Enhancers	Gastric	stomach
24	chr12:622200-622600	Enhancers	Fetal Heart	heart
25	chr12:622200-623200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:622200-623200	Enhancers	Placenta	Placenta

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