Variant report

Variant	esv3381698
Chromosome Location	chr12:12212335-12214933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199569718	chr12:12212370-12212371	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139455625	chr12:12212372-12212373	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561414865	chr12:12212391-12212392	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149658331	chr12:12212405-12212406	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs145473741	chr12:12212407-12212408	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs535853227	chr12:12212408-12212409	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563989092	chr12:12212417-12212418	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs139153142	chr12:12212418-12212419	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566464262	chr12:12212424-12212425	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs533849551	chr12:12212428-12212429	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568179389	chr12:12212429-12212430	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187809660	chr12:12212494-12212495	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114757641	chr12:12212513-12212514	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369299954	chr12:12212544-12212545	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs560916300	chr12:12212550-12212551	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574746189	chr12:12212557-12212558	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs61923174	chr12:12212562-12212563	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs554108937	chr12:12212586-12212587	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs193275169	chr12:12212589-12212590	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs546264997	chr12:12212637-12212638	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564555010	chr12:12212641-12212642	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531932908	chr12:12212698-12212699	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2961547	chr12:12212699-12212700	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs189497568	chr12:12212700-12212701	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529515298	chr12:12212701-12212702	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547796428	chr12:12212722-12212723	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376412608	chr12:12212723-12212724	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566446866	chr12:12212725-12212726	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs527422303	chr12:12212734-12212735	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs552245927	chr12:12212746-12212747	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs377590052	chr12:12212763-12212764	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370498215	chr12:12212810-12212811	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570596342	chr12:12212854-12212855	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563684908	chr12:12212858-12212859	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556349118	chr12:12212880-12212881	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182285474	chr12:12212928-12212929	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372409639	chr12:12212933-12212934	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2961548	chr12:12212938-12212939	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188050870	chr12:12212945-12212946	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371016428	chr12:12212948-12212949	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563769947	chr12:12212961-12212962	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529532870	chr12:12213000-12213001	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535715967	chr12:12213018-12213019	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553915106	chr12:12213019-12213020	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192533621	chr12:12213026-12213027	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs34324716	chr12:12213037-12213038	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs112449891	chr12:12213046-12213047	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183974157	chr12:12213051-12213052	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543629674	chr12:12213053-12213054	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs551862969	chr12:12213056-12213057	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Acute lymphoblastic leukemia	21248843	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
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12200200-12213600	Weak transcription	Right Atrium	heart
2	chr12:12209600-12224000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:12210200-12213200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:12210400-12215200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:12210400-12217000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:12211400-12217600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:12211800-12212400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:12212200-12213200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:12212400-12212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:12212800-12213000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:12213000-12214400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:12213200-12214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:12214400-12214800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:12214600-12214800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:12214800-12215400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:12214800-12217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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