Variant report

Variant	esv3323029
Chromosome Location	chr12:620369-620873
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	chr12:618073..620518-chr12:625351..628084,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73032473	chr12:620369-620370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368180120	chr12:620380-620381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201860409	chr12:620381-620382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202235456	chr12:620414-620415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200224652	chr12:620421-620422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543340396	chr12:620423-620424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182861772	chr12:620427-620428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57799088	chr12:620438-620439	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576048806	chr12:620443-620444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201501859	chr12:620452-620453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111691445	chr12:620459-620460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369087182	chr12:620465-620466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111454192	chr12:620467-620468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543475167	chr12:620475-620476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57525222	chr12:620478-620479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59679012	chr12:620480-620481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372941867	chr12:620494-620495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58875878	chr12:620501-620502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377518044	chr12:620506-620507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565046715	chr12:620524-620525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375875346	chr12:620525-620526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60574972	chr12:620526-620527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61472199	chr12:620532-620533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372994753	chr12:620539-620540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532285173	chr12:620546-620547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547268346	chr12:620547-620548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186709112	chr12:620562-620563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559536765	chr12:620568-620569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529927425	chr12:620569-620570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200394506	chr12:620573-620574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201546276	chr12:620577-620578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548528126	chr12:620585-620586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12297424	chr12:620609-620610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12300033	chr12:620617-620618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200073820	chr12:620619-620620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138069229	chr12:620621-620622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369778686	chr12:620636-620637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199560953	chr12:620646-620647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200813875	chr12:620656-620657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368256943	chr12:620680-620681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201785810	chr12:620700-620701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12319001	chr12:620731-620732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12319002	chr12:620737-620738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537389009	chr12:620743-620744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199787413	chr12:620756-620757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569638491	chr12:620757-620758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151232809	chr12:620769-620770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375512970	chr12:620772-620773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537055271	chr12:620812-620813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201350546	chr12:620831-620832	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:616000-620600	Enhancers	Fetal Heart	heart
2	chr12:616400-620400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:616600-620600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:616600-620600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:617200-620600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:617800-620400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:617800-620400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:617800-620600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:618000-620600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:618000-620800	Enhancers	Fetal Kidney	kidney
11	chr12:618200-620800	Enhancers	Pancreas	Pancrea
12	chr12:618800-620400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:618800-620800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:619000-620800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:619000-621400	Weak transcription	Lung	lung
16	chr12:619000-622200	Weak transcription	Placenta	Placenta
17	chr12:619400-620600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:619400-626000	Enhancers	Stomach Mucosa	stomach
19	chr12:619600-620400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr12:619600-621800	Weak transcription	Gastric	stomach
21	chr12:619600-621800	Weak transcription	Right Atrium	heart
22	chr12:619800-622400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:619800-622600	Weak transcription	Right Ventricle	heart
24	chr12:619800-628000	Weak transcription	Brain Anterior Caudate	brain
25	chr12:620000-620400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:620000-620600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:620000-620800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:620000-622800	Weak transcription	Left Ventricle	heart
29	chr12:620200-620600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:620200-620800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:620200-622400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:620200-633200	Weak transcription	NHEK	skin
33	chr12:620400-637600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:620400-638200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:620600-622200	Weak transcription	Fetal Heart	heart
36	chr12:620600-630600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:620600-632800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:620600-636600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:620600-637800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:620800-623000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:620800-648000	Weak transcription	Pancreas	Pancrea

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