Variant report

Variant	nsv524568
Chromosome Location	chr15:33993483-33997257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:33583780..33585600-chr15:33992062..33993955,12	MCF-7	breast:
2	chr1:121484531..121485045-chr15:33993204..33993823,2	MCF-7	breast:
3	chr15:33601386..33602463-chr15:33992935..33994146,8	MCF-7	breast:
4	chr15:33584808..33585513-chr15:33993586..33994135,2	K562	blood:
5	chr15:33584630..33585563-chr15:33992613..33993545,3	K562	blood:
6	chr15:33378525..33379153-chr15:33992666..33993558,2	K562	blood:

Variant related genes	Relation type
ENSG00000259446	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2280417	chr15:33993483-33993484	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546721781	chr15:33993529-33993530	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531315440	chr15:33993534-33993535	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140508763	chr15:33993559-33993560	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113033879	chr15:33993565-33993566	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557024139	chr15:33993568-33993569	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375921741	chr15:33993588-33993589	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74005963	chr15:33993608-33993609	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536169662	chr15:33993609-33993610	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554806089	chr15:33993630-33993631	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79295703	chr15:33993651-33993652	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138623316	chr15:33993652-33993653	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182454380	chr15:33993695-33993696	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs16953951	chr15:33993750-33993751	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576961785	chr15:33993754-33993755	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs62012580	chr15:33993757-33993758	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144534499	chr15:33993773-33993774	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530071932	chr15:33993791-33993792	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548612523	chr15:33993799-33993800	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72713271	chr15:33993822-33993823	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527975697	chr15:33993824-33993825	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547585717	chr15:33993852-33993853	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187927017	chr15:33993857-33993858	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571034884	chr15:33993871-33993872	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114687500	chr15:33993916-33993917	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574130194	chr15:33993954-33993955	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550660709	chr15:33994006-33994007	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138030859	chr15:33994057-33994058	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs193067897	chr15:33994072-33994073	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372842282	chr15:33994082-33994083	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554261462	chr15:33994112-33994113	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185794557	chr15:33994127-33994128	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566191774	chr15:33994151-33994152	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35962737	chr15:33994179-33994180	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555023114	chr15:33994180-33994181	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558361107	chr15:33994181-33994182	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115827314	chr15:33994206-33994207	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73377326	chr15:33994211-33994212	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556199421	chr15:33994231-33994232	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187500603	chr15:33994250-33994251	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143562118	chr15:33994271-33994272	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192311186	chr15:33994276-33994277	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115526485	chr15:33994294-33994295	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184559312	chr15:33994306-33994307	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564684902	chr15:33994316-33994317	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531898361	chr15:33994335-33994336	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558999573	chr15:33994345-33994346	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565149379	chr15:33994346-33994347	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116112746	chr15:33994360-33994361	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577078785	chr15:33994372-33994373	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33988800-34002600	Weak transcription	Aorta	Aorta
2	chr15:33989000-34001600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:33991600-33996800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:33992200-33993600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:33992800-33993600	Enhancers	NH-A	brain
6	chr15:33992800-33994000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr15:33993000-33994800	Strong transcription	Stomach Smooth Muscle	stomach
8	chr15:33993000-34001600	Weak transcription	Fetal Brain Female	brain
9	chr15:33993000-34034200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr15:33993000-34034600	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:33993200-33993600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr15:33993200-33993800	Enhancers	HepG2	liver
13	chr15:33993200-33994600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr15:33993200-33994800	Weak transcription	Fetal Brain Male	brain
15	chr15:33993400-33993600	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:33993400-33993800	Strong transcription	Fetal Muscle Leg	muscle
17	chr15:33993400-33994000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:33993400-33994200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:33993400-33994400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:33993400-33994400	Strong transcription	Brain Anterior Caudate	brain
21	chr15:33993400-34002600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:33993600-34016400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:33993800-34001600	Weak transcription	Fetal Muscle Leg	muscle
24	chr15:33994200-33994400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:33994400-34001000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:33994400-34001800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:33994400-34002600	Weak transcription	Brain Anterior Caudate	brain
28	chr15:33994600-34002800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:33994800-33995800	Enhancers	Fetal Brain Male	brain
30	chr15:33994800-34000200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr15:33996800-33997400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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