Variant report

Variant	nsv437739
Chromosome Location	chr12:29329505-29338866
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: 392 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6487779	chr12:29329505-29329506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565208544	chr12:29329561-29329562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79513871	chr12:29329618-29329619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373162374	chr12:29329628-29329629	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs79286805	chr12:29329735-29329736	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79037433	chr12:29329737-29329738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550901386	chr12:29329752-29329753	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs577655945	chr12:29329757-29329758	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs58670584	chr12:29329775-29329776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs398055441	chr12:29329778-29329779	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536373028	chr12:29329804-29329805	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569036290	chr12:29329847-29329848	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539654494	chr12:29329848-29329849	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548355568	chr12:29329857-29329858	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557951032	chr12:29329859-29329860	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6487780	chr12:29329899-29329900	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569879363	chr12:29329959-29329960	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537671565	chr12:29329960-29329961	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10843338	chr12:29329987-29329988	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150033958	chr12:29330031-29330032	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574815908	chr12:29330049-29330050	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73265760	chr12:29330054-29330055	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148626511	chr12:29330084-29330085	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575830679	chr12:29330100-29330101	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567256917	chr12:29330112-29330113	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546000539	chr12:29330167-29330168	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564295414	chr12:29330185-29330186	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572615614	chr12:29330190-29330191	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539982428	chr12:29330203-29330204	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144214041	chr12:29330214-29330215	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528911992	chr12:29330219-29330220	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550291596	chr12:29330222-29330223	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12578964	chr12:29330237-29330238	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191313875	chr12:29330241-29330242	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147763405	chr12:29330254-29330255	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538785908	chr12:29330273-29330274	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566628855	chr12:29330287-29330288	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533966258	chr12:29330348-29330349	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557095658	chr12:29330374-29330375	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571131592	chr12:29330383-29330384	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547162722	chr12:29330386-29330387	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568437118	chr12:29330390-29330391	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534581750	chr12:29330442-29330443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535873566	chr12:29330492-29330493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557037479	chr12:29330500-29330501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183070977	chr12:29330512-29330513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539705914	chr12:29330543-29330544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558021708	chr12:29330547-29330548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538247253	chr12:29330613-29330614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552595411	chr12:29330648-29330649	Weak transcription Enhancers	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29317600-29340800	Weak transcription	Left Ventricle	heart
2	chr12:29318400-29329600	Weak transcription	NHLF	lung
3	chr12:29322400-29335600	Weak transcription	Gastric	stomach
4	chr12:29323000-29329600	Weak transcription	Adipose Nuclei	Adipose
5	chr12:29323000-29332400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:29324000-29329600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:29325200-29329800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:29325200-29330200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:29325200-29335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:29325400-29329800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:29325400-29364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:29325600-29344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:29326400-29329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:29328800-29329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:29328800-29354200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:29329200-29329600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:29329200-29329800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:29329200-29330200	Enhancers	HUVEC	blood vessel
19	chr12:29329200-29330800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:29329600-29329800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:29329600-29330000	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:29329600-29330000	Enhancers	NHLF	lung
23	chr12:29329600-29330200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:29329600-29330200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:29329600-29330400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:29329600-29330400	Enhancers	Adipose Nuclei	Adipose
27	chr12:29329600-29330600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:29329800-29330200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:29329800-29330200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:29329800-29330400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:29329800-29330400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr12:29330000-29335000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:29330200-29330600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:29330200-29334800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:29330200-29335000	Weak transcription	HUVEC	blood vessel
36	chr12:29330400-29330600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:29330400-29334000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:29332000-29332600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:29332200-29332600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:29332400-29332600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:29334800-29335800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:29335800-29336000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:29336000-29344200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:29336000-29354000	Weak transcription	Primary hematopoietic stem cells	blood

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