Variant report

Variant	esv20241
Chromosome Location	chr12:22322309-22326692
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	chr12:22254309..22254859-chr12:22325837..22326339,2	MCF-7	breast:
2	chr12:22273884..22274876-chr12:22325749..22326717,3	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552640259	chr12:22322312-22322313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs66529819	chr12:22322317-22322318	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538222924	chr12:22322340-22322341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146210928	chr12:22322418-22322419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7297849	chr12:22322420-22322421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7297942	chr12:22322466-22322467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7298047	chr12:22322495-22322496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75101565	chr12:22322512-22322513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546120156	chr12:22322515-22322516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76075799	chr12:22322519-22322520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386375862	chr12:22322529-22322530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12227640	chr12:22322531-22322532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7963642	chr12:22322558-22322559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374438056	chr12:22322625-22322626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541966372	chr12:22322638-22322639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368898683	chr12:22322642-22322643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117607517	chr12:22322674-22322675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375801939	chr12:22322681-22322682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527291580	chr12:22322715-22322716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189924787	chr12:22322729-22322730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372287162	chr12:22322730-22322731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533144925	chr12:22322769-22322770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7298331	chr12:22322789-22322790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147878663	chr12:22325211-22325212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2009625	chr12:22325245-22325246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376925933	chr12:22325332-22325333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76415721	chr12:22325393-22325394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148942121	chr12:22325402-22325403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143720367	chr12:22325424-22325425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556885234	chr12:22325437-22325438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573317365	chr12:22325438-22325439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536101583	chr12:22325455-22325456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151086384	chr12:22325488-22325489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79948651	chr12:22325496-22325497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79802701	chr12:22325501-22325502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79812459	chr12:22325503-22325504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71448638	chr12:22325528-22325529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138142124	chr12:22325529-22325530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377298840	chr12:22325535-22325536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs5023581	chr12:22325568-22325569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141060675	chr12:22325642-22325643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186815042	chr12:22325708-22325709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77112903	chr12:22325755-22325756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537804928	chr12:22325761-22325762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201873354	chr12:22325795-22325796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560138609	chr12:22325871-22325872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528659849	chr12:22325876-22325877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10541523	chr12:22325877-22325878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551975767	chr12:22325878-22325879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371192038	chr12:22325894-22325895	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	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
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	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	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22318200-22322400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:22321800-22322800	Enhancers	Primary T cells from cord blood	blood
3	chr12:22322000-22322400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:22322200-22322600	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:22322200-22322600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:22322200-22322600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:22322200-22322800	Enhancers	Fetal Thymus	thymus
8	chr12:22322400-22322800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:22325200-22326000	Enhancers	HSMMtube	muscle
10	chr12:22325400-22325800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:22326400-22326800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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