Variant report

Variant	nsv974567
Chromosome Location	chr15:43615897-43617143
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	chr15:43614051..43615905-chr15:43661456..43663446,2	K562	blood:

Variant related genes	Relation type
ENSG00000137822	chromatin interactions
ENSG00000140265	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 63 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11637653	chr15:43615938-43615939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183644704	chr15:43615991-43615992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570064529	chr15:43616013-43616014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535469301	chr15:43616026-43616027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555874249	chr15:43616043-43616044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527348857	chr15:43616053-43616054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565842055	chr15:43616117-43616118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534756774	chr15:43616128-43616129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188367454	chr15:43616168-43616169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577788883	chr15:43616181-43616182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549223576	chr15:43616182-43616183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557356245	chr15:43616221-43616222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533171632	chr15:43616229-43616230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573622849	chr15:43616278-43616279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542260060	chr15:43616421-43616422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77196935	chr15:43616424-43616425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528209868	chr15:43616468-43616469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545095817	chr15:43616487-43616488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565103419	chr15:43616502-43616503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530601257	chr15:43616579-43616580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550889372	chr15:43616581-43616582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144167509	chr15:43616585-43616586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187130549	chr15:43616601-43616602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569861128	chr15:43616646-43616647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192412883	chr15:43616666-43616667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146507288	chr15:43616679-43616680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140831473	chr15:43616681-43616682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150129959	chr15:43616689-43616690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145560813	chr15:43616693-43616694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567424539	chr15:43616709-43616710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537239758	chr15:43616751-43616752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113705644	chr15:43616770-43616771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187123939	chr15:43616771-43616772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543270678	chr15:43616816-43616817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544407695	chr15:43616827-43616828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35295618	chr15:43616839-43616840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113062893	chr15:43616840-43616841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374513325	chr15:43616865-43616866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62706561	chr15:43616866-43616867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71111811	chr15:43616868-43616869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79262446	chr15:43616869-43616870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200953301	chr15:43616870-43616871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75384461	chr15:43616871-43616872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531650953	chr15:43616942-43616943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149177746	chr15:43616960-43616961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146506931	chr15:43616961-43616962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575440538	chr15:43616979-43616980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544077369	chr15:43616993-43616994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561099566	chr15:43617095-43617096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139075751	chr15:43617133-43617134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Mental retardation	17124404	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43609000-43620200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:43611600-43620200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:43613000-43620600	Weak transcription	Right Atrium	heart
4	chr15:43613600-43620200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:43615000-43621000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:43615600-43617600	Weak transcription	Adipose Nuclei	Adipose
7	chr15:43615600-43620600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:43615800-43620600	Weak transcription	Brain Substantia Nigra	brain
9	chr15:43616400-43616600	Enhancers	Fetal Brain Male	brain
10	chr15:43616400-43619600	Weak transcription	Primary B cells from cord blood	blood
11	chr15:43616400-43620600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:43616400-43620600	Weak transcription	HSMM	muscle
13	chr15:43616800-43620200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:43616800-43620400	Weak transcription	Fetal Intestine Large	intestine
15	chr15:43616800-43620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:43616800-43620600	Weak transcription	Fetal Brain Male	brain
17	chr15:43617000-43620000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:43617000-43620000	Weak transcription	NHDF-Ad	bronchial
19	chr15:43617000-43620600	Weak transcription	Fetal Lung	lung
20	chr15:43617000-43621200	Weak transcription	Osteobl	bone

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