Variant report

Variant	esv2762969
Chromosome Location	chr12:29330008-29334901
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	chr12:29301815..29303457-chr12:29332835..29335196,2	K562	blood:

Variant related genes	Relation type
ENSG00000064763	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs150033958	chr12:29330031-29330032	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574815908	chr12:29330049-29330050	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73265760	chr12:29330054-29330055	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148626511	chr12:29330084-29330085	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575830679	chr12:29330100-29330101	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567256917	chr12:29330112-29330113	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546000539	chr12:29330167-29330168	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564295414	chr12:29330185-29330186	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572615614	chr12:29330190-29330191	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539982428	chr12:29330203-29330204	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144214041	chr12:29330214-29330215	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528911992	chr12:29330219-29330220	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550291596	chr12:29330222-29330223	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12578964	chr12:29330237-29330238	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191313875	chr12:29330241-29330242	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147763405	chr12:29330254-29330255	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538785908	chr12:29330273-29330274	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566628855	chr12:29330287-29330288	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533966258	chr12:29330348-29330349	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557095658	chr12:29330374-29330375	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571131592	chr12:29330383-29330384	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547162722	chr12:29330386-29330387	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568437118	chr12:29330390-29330391	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534581750	chr12:29330442-29330443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535873566	chr12:29330492-29330493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557037479	chr12:29330500-29330501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183070977	chr12:29330512-29330513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539705914	chr12:29330543-29330544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558021708	chr12:29330547-29330548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538247253	chr12:29330613-29330614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552595411	chr12:29330648-29330649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540407188	chr12:29330684-29330685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77921139	chr12:29330692-29330693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141098336	chr12:29330696-29330697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544218153	chr12:29330697-29330698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562298956	chr12:29330707-29330708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533274721	chr12:29330737-29330738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11462609	chr12:29330767-29330768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397794718	chr12:29330774-29330775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200417838	chr12:29330776-29330777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551738979	chr12:29330789-29330790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139469411	chr12:29330790-29330791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553850138	chr12:29330799-29330800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372539343	chr12:29330800-29330801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373983996	chr12:29330839-29330840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7315584	chr12:29330843-29330844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542778197	chr12:29330846-29330847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527509859	chr12:29330862-29330863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549180887	chr12:29330943-29330944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35643096	chr12:29331054-29331055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
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 myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29317600-29340800	Weak transcription	Left Ventricle	heart
2	chr12:29322400-29335600	Weak transcription	Gastric	stomach
3	chr12:29323000-29332400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:29325200-29330200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:29325200-29335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:29325400-29364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:29325600-29344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:29328800-29354200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:29329200-29330200	Enhancers	HUVEC	blood vessel
10	chr12:29329200-29330800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:29329600-29330200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:29329600-29330200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:29329600-29330400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:29329600-29330400	Enhancers	Adipose Nuclei	Adipose
15	chr12:29329600-29330600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:29329800-29330200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:29329800-29330200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:29329800-29330400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:29329800-29330400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:29330000-29335000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:29330200-29330600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:29330200-29334800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:29330200-29335000	Weak transcription	HUVEC	blood vessel
24	chr12:29330400-29330600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:29330400-29334000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:29332000-29332600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:29332200-29332600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:29332400-29332600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:29334800-29335800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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