Variant report

Variant	nsv1041282
Chromosome Location	chr15:54436686-54476135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:54467594..54469950-chr8:103818486..103820863,2	MCF-7	breast:
2	chr15:54468684..54471121-chr15:54610190..54612096,2	K562	blood:
3	chr15:54438739..54441656-chr17:57920173..57923142,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	chromatin interactions

Extended variants
information (count: 772 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12910912	chr15:54436686-54436687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141325818	chr15:54436693-54436694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187392243	chr15:54436713-54436714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540433886	chr15:54436723-54436724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143523258	chr15:54436738-54436739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572836809	chr15:54436754-54436755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541524261	chr15:54436775-54436776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12439401	chr15:54436784-54436785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs561967167	chr15:54436822-54436823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575083709	chr15:54436833-54436834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371486966	chr15:54436867-54436868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148002012	chr15:54436911-54436912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544136779	chr15:54436917-54436918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189873333	chr15:54436928-54436929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546980815	chr15:54436933-54436934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573201390	chr15:54436947-54436948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529619984	chr15:54436952-54436953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76670628	chr15:54436983-54436984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11632968	chr15:54437095-54437096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577542912	chr15:54437101-54437102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556659664	chr15:54437105-54437106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181590470	chr15:54437114-54437115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371053316	chr15:54437133-54437134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141647977	chr15:54437140-54437141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150513782	chr15:54437381-54437382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542145710	chr15:54437421-54437422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13329338	chr15:54437445-54437446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374299762	chr15:54437457-54437458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575401880	chr15:54437481-54437482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12915939	chr15:54437531-54437532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7181337	chr15:54437536-54437537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17732718	chr15:54437550-54437551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540710475	chr15:54437568-54437569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185999250	chr15:54437587-54437588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529263091	chr15:54437589-54437590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117832225	chr15:54437690-54437691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563012065	chr15:54437719-54437720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77266294	chr15:54437746-54437747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551592679	chr15:54437784-54437785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571484134	chr15:54437860-54437861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12917028	chr15:54437876-54437877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs546277831	chr15:54437909-54437910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190012105	chr15:54437911-54437912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143062444	chr15:54437943-54437944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182690393	chr15:54437946-54437947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146140801	chr15:54437963-54437964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140150337	chr15:54437964-54437965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577910677	chr15:54437965-54437966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375519221	chr15:54437968-54437969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540771362	chr15:54437970-54437971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54432200-54451200	Weak transcription	Fetal Lung	lung
2	chr15:54440200-54441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:54440600-54442000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr15:54440800-54442000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:54440800-54442400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:54440800-54443800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:54441000-54441600	Enhancers	HUVEC	blood vessel
8	chr15:54441000-54443200	Enhancers	NH-A	brain
9	chr15:54441200-54441400	Enhancers	Aorta	Aorta
10	chr15:54441200-54443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:54441400-54442600	Weak transcription	Aorta	Aorta
12	chr15:54441600-54442000	Weak transcription	HUVEC	blood vessel
13	chr15:54441800-54453200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:54442000-54442400	Enhancers	HUVEC	blood vessel
15	chr15:54442000-54442600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr15:54442000-54442800	Enhancers	Primary hematopoietic stem cells	blood
17	chr15:54442000-54442800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:54442000-54443800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:54442400-54442800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr15:54442400-54442800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:54442600-54442800	Enhancers	Aorta	Aorta
22	chr15:54442600-54443000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr15:54442800-54443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:54442800-54443000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:54450600-54451200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:54450600-54452600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:54451200-54452000	Enhancers	Fetal Lung	lung
28	chr15:54467600-54468600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:54468000-54468800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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