Variant report

Variant	esv3443211
Chromosome Location	chr15:40783910-40786008
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	chr15:40763768..40766540-chr15:40784281..40786409,2	K562	blood:
2	chr15:40782898..40785879-chr15:40789263..40792027,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12592080	chr15:40784820-40784821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs58758174	chr15:40784821-40784822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374906355	chr15:40784822-40784823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56027412	chr15:40784824-40784825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556340633	chr15:40784858-40784859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4923873	chr15:40784859-40784860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs369854327	chr15:40784910-40784911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142178045	chr15:40784921-40784922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577751711	chr15:40784963-40784964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543877365	chr15:40784985-40784986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557122644	chr15:40784998-40784999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573967821	chr15:40785008-40785009	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111990200	chr15:40785027-40785028	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542961333	chr15:40785057-40785058	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs559949087	chr15:40785081-40785082	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576468891	chr15:40785198-40785199	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs369513846	chr15:40785235-40785236	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528716162	chr15:40785304-40785305	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs138390501	chr15:40785335-40785336	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149175318	chr15:40785337-40785338	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs374770306	chr15:40785344-40785345	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs143228505	chr15:40785391-40785392	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs75526302	chr15:40785426-40785427	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528836473	chr15:40785478-40785479	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148305672	chr15:40785481-40785482	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558550678	chr15:40785493-40785494	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs114382952	chr15:40785506-40785507	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192089556	chr15:40785512-40785513	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs149974609	chr15:40785515-40785516	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs367898829	chr15:40785517-40785518	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs528132913	chr15:40785536-40785537	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs534591556	chr15:40785537-40785538	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557561066	chr15:40785564-40785565	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs9652438	chr15:40785615-40785616	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537188518	chr15:40785664-40785665	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557384649	chr15:40785715-40785716	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs573953946	chr15:40785752-40785753	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536618810	chr15:40785773-40785774	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs373710952	chr15:40785777-40785778	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs34141300	chr15:40785785-40785786	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553715468	chr15:40785801-40785802	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs141559347	chr15:40785886-40785887	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182645709	chr15:40785952-40785953	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs565522007	chr15:40785973-40785974	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs6492948	chr15:40785980-40785981	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551002585	chr15:40785987-40785988	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs75726656	chr15:40786001-40786002	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40784800-40785000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr15:40785000-40785200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:40785000-40785200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:40785000-40785400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:40785000-40785800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:40785000-40786600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr15:40785000-40786600	Enhancers	Dnd41	blood
8	chr15:40785000-40786800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr15:40785200-40785400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr15:40785200-40785800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:40785200-40785800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:40785200-40785800	Enhancers	K562	blood
13	chr15:40785200-40786000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:40785200-40786000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr15:40785200-40786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:40785200-40786200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:40785200-40786400	Enhancers	NHEK	skin
18	chr15:40785200-40786600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr15:40785200-40786600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:40785200-40786600	Enhancers	HMEC	breast
21	chr15:40785400-40785600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr15:40785400-40785800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:40785400-40785800	Enhancers	HSMM	muscle
24	chr15:40785400-40786000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:40785400-40786000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr15:40785400-40786400	Enhancers	Hela-S3	cervix
27	chr15:40785600-40785800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr15:40785600-40786000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:40785600-40786000	Enhancers	Primary T cells from cord blood	blood
30	chr15:40785600-40786000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr15:40785600-40786000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:40785600-40786000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:40785600-40786000	Bivalent Enhancer	Osteobl	bone
34	chr15:40785600-40786200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr15:40785600-40786200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr15:40785600-40786200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr15:40785600-40786600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:40785600-40787200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:40785800-40786000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:40785800-40786000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
41	chr15:40785800-40786000	Bivalent Enhancer	NH-A	brain
42	chr15:40785800-40786200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:40785800-40786200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:40785800-40786200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:40785800-40786200	Enhancers	Small Intestine	intestine
46	chr15:40785800-40786400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:40785800-40786600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:40785800-40786800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:40785800-40786800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr15:40785800-40787000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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