Variant report

Variant	nsv833012
Chromosome Location	chr15:54353620-54393030
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:54254977..54255831-chr15:54374717..54376166,5	MCF-7	breast:
2	chr15:54268767..54269686-chr15:54375127..54375711,4	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	chr15:54355045..54357590-chr15:54360185..54362187,2	K562	blood:
6	chr15:54367693..54370404-chr15:54374986..54376971,2	MCF-7	breast:
7	chr15:54254685..54255342-chr15:54375170..54375703,2	MCF-7	breast:
8	chr15:54375029..54375976-chr15:55400805..55401778,3	MCF-7	breast:
9	chr15:54367693..54370404-chr15:54374986..54376971,2	MCF-7	breast:
10	chr15:54355045..54357590-chr15:54360185..54362187,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259669	chromatin interactions

Extended variants
information (count: 876 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:876 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369866274	chr15:54353621-54353622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377718177	chr15:54353652-54353653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140175096	chr15:54353654-54353655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532408205	chr15:54353705-54353706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149833782	chr15:54353717-54353718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547691399	chr15:54353752-54353753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112778206	chr15:54353756-54353757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187080898	chr15:54353774-54353775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145800851	chr15:54353780-54353781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192359650	chr15:54353785-54353786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115169143	chr15:54353799-54353800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116738058	chr15:54353807-54353808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536839185	chr15:54353832-54353833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148553317	chr15:54353846-54353847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79072209	chr15:54353885-54353886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542585206	chr15:54353891-54353892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537857575	chr15:54353897-54353898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557746508	chr15:54353898-54353899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578001425	chr15:54353937-54353938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182263595	chr15:54353966-54353967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113354782	chr15:54354032-54354033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565916452	chr15:54354060-54354061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536441829	chr15:54354062-54354063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554018877	chr15:54354091-54354092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573780966	chr15:54354099-54354100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201021686	chr15:54354118-54354119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185786307	chr15:54354122-54354123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190692737	chr15:54354125-54354126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142880275	chr15:54354138-54354139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545002323	chr15:54354170-54354171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564982895	chr15:54354186-54354187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147683752	chr15:54354222-54354223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547721849	chr15:54354226-54354227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116499282	chr15:54354242-54354243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530256303	chr15:54354243-54354244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142345362	chr15:54354251-54354252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568869600	chr15:54354254-54354255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537894547	chr15:54354271-54354272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146356254	chr15:54354307-54354308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571297392	chr15:54354409-54354410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550986220	chr15:54354414-54354415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570865732	chr15:54354430-54354431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553803683	chr15:54354431-54354432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573844450	chr15:54354432-54354433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182500873	chr15:54354456-54354457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147861146	chr15:54354464-54354465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370299168	chr15:54354465-54354466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545140501	chr15:54354472-54354473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565024561	chr15:54354512-54354513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75978273	chr15:54354520-54354521	Weak transcription	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54344600-54360600	Weak transcription	Fetal Lung	lung
2	chr15:54356600-54358000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:54357800-54358000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:54359800-54360000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:54360600-54360800	Enhancers	Fetal Lung	lung
6	chr15:54360800-54361200	Weak transcription	Fetal Lung	lung
7	chr15:54361200-54362800	Enhancers	Fetal Lung	lung
8	chr15:54361400-54362600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr15:54362200-54362800	Enhancers	Aorta	Aorta
10	chr15:54362200-54362800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr15:54362800-54365000	Weak transcription	Fetal Lung	lung
12	chr15:54365000-54365400	ZNF genes & repeats	Fetal Lung	lung
13	chr15:54374200-54374400	Enhancers	HepG2	liver
14	chr15:54375200-54376200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:54375400-54375600	Enhancers	Adipose Nuclei	Adipose
16	chr15:54375400-54376000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:54375400-54376000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:54375800-54376400	Enhancers	Fetal Muscle Leg	muscle
19	chr15:54376000-54376400	Enhancers	Fetal Muscle Trunk	muscle
20	chr15:54376000-54380000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:54376200-54380600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:54380000-54381000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr15:54380400-54381400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:54380600-54380800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr15:54380800-54381000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr15:54381000-54381200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr15:54381000-54382200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr15:54381200-54381400	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr15:54381400-54381600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr15:54381600-54382000	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr15:54382000-54382400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr15:54382200-54383200	Enhancers	Skeletal Muscle Female	skeletal muscle

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