Variant report

Variant	nsv1043823
Chromosome Location	chr15:54468477-54532985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:54520149..54522088-chr15:54523753..54525995,2	MCF-7	breast:
2	chr15:54520149..54522088-chr15:54523753..54525995,2	MCF-7	breast:
3	chr15:54468684..54471121-chr15:54610190..54612096,2	K562	blood:
4	chr15:54467594..54469950-chr8:103818486..103820863,2	MCF-7	breast:
5	chr11:67937367..67938965-chr15:54485479..54488109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	chromatin interactions

Extended variants
information (count: 1766 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1766 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1897051	chr15:54468477-54468478	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548043364	chr15:54468496-54468497	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149767404	chr15:54468546-54468547	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1897050	chr15:54468547-54468548	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145691359	chr15:54468560-54468561	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569020479	chr15:54468579-54468580	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148908505	chr15:54468653-54468654	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1897049	chr15:54468666-54468667	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571187152	chr15:54468761-54468762	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368669448	chr15:54468813-54468814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs28542531	chr15:54468835-54468836	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72748217	chr15:54468879-54468880	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542451205	chr15:54468927-54468928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189890212	chr15:54468945-54468946	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182052971	chr15:54468954-54468955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576130745	chr15:54468964-54468965	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573128678	chr15:54468976-54468977	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545451294	chr15:54468982-54468983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565159381	chr15:54468988-54468989	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146997065	chr15:54469045-54469046	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541054397	chr15:54469055-54469056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577900524	chr15:54469083-54469084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533949768	chr15:54469108-54469109	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530414956	chr15:54469146-54469147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10083589	chr15:54469149-54469150	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147616648	chr15:54469151-54469152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531321786	chr15:54469179-54469180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551427713	chr15:54469198-54469199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10083599	chr15:54469208-54469209	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs80251694	chr15:54469266-54469267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs77890537	chr15:54469288-54469289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553507722	chr15:54469296-54469297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567267198	chr15:54469352-54469353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536093478	chr15:54469361-54469362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367686682	chr15:54469362-54469363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142157898	chr15:54469368-54469369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575806843	chr15:54469411-54469412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11634695	chr15:54469458-54469459	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370094109	chr15:54469464-54469465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10083724	chr15:54469467-54469468	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531321198	chr15:54469478-54469479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572440779	chr15:54469487-54469488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145905465	chr15:54469511-54469512	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561220199	chr15:54469513-54469514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555376609	chr15:54469575-54469576	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575221375	chr15:54469649-54469650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148216628	chr15:54469678-54469679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560682836	chr15:54469680-54469681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186005926	chr15:54469692-54469693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532768524	chr15:54469718-54469719	Inactive region	Chromatin interactive region	1 gene(s)	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
Melanoma	20877625	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54467600-54468600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:54468000-54468800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:54479400-54479800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:54487200-54488000	Enhancers	Colon Smooth Muscle	Colon
5	chr15:54489400-54492400	Weak transcription	Fetal Lung	lung
6	chr15:54490000-54490200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:54490000-54490400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr15:54490000-54490800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:54490200-54490600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr15:54490200-54490600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:54490200-54490800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:54490200-54490800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:54490200-54490800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:54490400-54490800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr15:54501200-54501800	ZNF genes & repeats	Aorta	Aorta
16	chr15:54501200-54510600	Weak transcription	Fetal Lung	lung
17	chr15:54501800-54506800	Weak transcription	Aorta	Aorta
18	chr15:54502800-54503000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:54503000-54503800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr15:54503000-54505200	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr15:54503800-54504000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr15:54504000-54504200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr15:54504200-54504400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr15:54504400-54504600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr15:54504600-54504800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr15:54504800-54505000	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr15:54505800-54506000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr15:54505800-54506000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr15:54510600-54510800	ZNF genes & repeats	Fetal Lung	lung
30	chr15:54510800-54515600	Weak transcription	Fetal Lung	lung
31	chr15:54515600-54516800	ZNF genes & repeats	Fetal Lung	lung
32	chr15:54516800-54529000	Weak transcription	Fetal Lung	lung
33	chr15:54518400-54518800	Weak transcription	Aorta	Aorta
34	chr15:54518800-54519000	ZNF genes & repeats	Aorta	Aorta
35	chr15:54519000-54519400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
36	chr15:54519000-54554400	Weak transcription	Aorta	Aorta
37	chr15:54519400-54549600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr15:54529000-54531400	Strong transcription	Fetal Lung	lung
39	chr15:54531400-54544800	Weak transcription	Fetal Lung	lung

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