Variant report

Variant	nsv569493
Chromosome Location	chr15:54364104-54395278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:54268767..54269686-chr15:54375127..54375711,4	MCF-7	breast:
2	chr15:54367693..54370404-chr15:54374986..54376971,2	MCF-7	breast:
3	chr15:54374868..54376175-chr15:55400827..55401744,4	MCF-7	breast:
4	chr15:54374784..54375687-chr15:55460665..55461171,2	MCF-7	breast:
5	chr15:54254977..54255831-chr15:54374717..54376166,5	MCF-7	breast:
6	chr15:54254685..54255342-chr15:54375170..54375703,2	MCF-7	breast:
7	chr15:54367693..54370404-chr15:54374986..54376971,2	MCF-7	breast:
8	chr15:54375029..54375976-chr15:55400805..55401778,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259669	chromatin interactions

Extended variants
information (count: 486 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10518755	chr15:54364104-54364105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11071025	chr15:54364168-54364169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535781853	chr15:54364230-54364231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555677756	chr15:54364241-54364242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111452738	chr15:54364294-54364295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11071026	chr15:54364302-54364303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs377643177	chr15:54364314-54364315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2414273	chr15:54364343-54364344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564433097	chr15:54364423-54364424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs118191347	chr15:54364443-54364444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114562741	chr15:54364476-54364477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11852771	chr15:54364552-54364553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529236109	chr15:54364554-54364555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549296054	chr15:54364557-54364558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562804863	chr15:54364565-54364566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190195901	chr15:54364613-54364614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551901887	chr15:54364618-54364619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565424070	chr15:54364620-54364621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533088490	chr15:54364625-54364626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546360815	chr15:54364629-54364630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181749536	chr15:54364632-54364633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11852819	chr15:54364637-54364638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555716169	chr15:54364638-54364639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571092903	chr15:54364655-54364656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186307425	chr15:54364694-54364695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537648473	chr15:54364696-54364697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557981346	chr15:54364748-54364749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11071027	chr15:54364761-54364762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540757455	chr15:54364762-54364763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553955930	chr15:54364777-54364778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553554759	chr15:54364795-54364796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573710537	chr15:54364796-54364797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115543577	chr15:54364841-54364842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562843758	chr15:54364906-54364907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531926364	chr15:54364907-54364908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188760119	chr15:54364912-54364913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565508848	chr15:54364936-54364937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146744527	chr15:54364979-54364980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546696292	chr15:54364984-54364985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181385644	chr15:54365002-54365003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528908210	chr15:54365030-54365031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs12902012	chr15:54365055-54365056	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531473041	chr15:54365069-54365070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201085851	chr15:54365080-54365081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201713054	chr15:54365081-54365082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs558104840	chr15:54365088-54365089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568868103	chr15:54365089-54365090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs538183888	chr15:54365090-54365091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs12901917	chr15:54365127-54365128	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571449729	chr15:54365128-54365129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54362800-54365000	Weak transcription	Fetal Lung	lung
2	chr15:54365000-54365400	ZNF genes & repeats	Fetal Lung	lung
3	chr15:54374200-54374400	Enhancers	HepG2	liver
4	chr15:54375200-54376200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr15:54375400-54375600	Enhancers	Adipose Nuclei	Adipose
6	chr15:54375400-54376000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:54375400-54376000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr15:54375800-54376400	Enhancers	Fetal Muscle Leg	muscle
9	chr15:54376000-54376400	Enhancers	Fetal Muscle Trunk	muscle
10	chr15:54376000-54380000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:54376200-54380600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:54380000-54381000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr15:54380400-54381400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:54380600-54380800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:54380800-54381000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr15:54381000-54381200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr15:54381000-54382200	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr15:54381200-54381400	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr15:54381400-54381600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr15:54381600-54382000	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr15:54382000-54382400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr15:54382200-54383200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr15:54394200-54395600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:54394800-54395400	Enhancers	Skeletal Muscle Male	skeletal muscle

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