Variant report

Variant	nsv1046331
Chromosome Location	chr15:53750074-53771124
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	chr15:53764582..53767473-chr15:53770323..53772488,2	MCF-7	breast:
2	chr15:53742047..53745419-chr15:53747908..53750168,3	MCF-7	breast:
3	chr15:53764582..53767473-chr15:53770323..53772488,2	MCF-7	breast:
4	chr15:53769287..53770876-chr15:53774426..53776268,2	MCF-7	breast:
5	chr15:53764851..53765366-chr15:53878705..53879636,2	MCF-7	breast:
6	chr15:53756936..53759590-chr15:53761111..53762983,2	K562	blood:
7	chr15:53756382..53757254-chr17:59603422..59604382,2	MCF-7	breast:
8	chr15:53729402..53730935-chr15:53762168..53764681,2	MCF-7	breast:
9	chr15:53756936..53759590-chr15:53761111..53762983,2	K562	blood:
10	chr15:53764621..53766901-chr15:53777731..53780214,2	MCF-7	breast:

No data

Extended variants
information (count: 425 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs595410	chr15:53750074-53750075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549342342	chr15:53750107-53750108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12900714	chr15:53750122-53750123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74645077	chr15:53750192-53750193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188424142	chr15:53750211-53750212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564535559	chr15:53750252-53750253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534063795	chr15:53750279-53750280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147503245	chr15:53750306-53750307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371383894	chr15:53750318-53750319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200522244	chr15:53750323-53750324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74741838	chr15:53750352-53750353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536446056	chr15:53750387-53750388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192825551	chr15:53750422-53750423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11852571	chr15:53750430-53750431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543826009	chr15:53750440-53750441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528579907	chr15:53750457-53750458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182995281	chr15:53750490-53750491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547144265	chr15:53750497-53750498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376909736	chr15:53750536-53750537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7167665	chr15:53750574-53750575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116044537	chr15:53750575-53750576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529100636	chr15:53750642-53750643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187315426	chr15:53750643-53750644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562788889	chr15:53750647-53750648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531609792	chr15:53750659-53750660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551681190	chr15:53750680-53750681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575024690	chr15:53750689-53750690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566073596	chr15:53750697-53750698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191358155	chr15:53750737-53750738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535094137	chr15:53750806-53750807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75506831	chr15:53750832-53750833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547623203	chr15:53750837-53750838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368738421	chr15:53750846-53750847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79048968	chr15:53750899-53750900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376416254	chr15:53750906-53750907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568462281	chr15:53750974-53750975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556310056	chr15:53750983-53750984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569891703	chr15:53751010-53751011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368811770	chr15:53751020-53751021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34612106	chr15:53751049-53751050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183885667	chr15:53751082-53751083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577610537	chr15:53751163-53751164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540176856	chr15:53751219-53751220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553592414	chr15:53751238-53751239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189344425	chr15:53751251-53751252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112720975	chr15:53751252-53751253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542867993	chr15:53751276-53751277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111617529	chr15:53751277-53751278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78821357	chr15:53751290-53751291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113931762	chr15:53751335-53751336	Weak transcription Enhancers	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
Breast cancer	21785460	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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53740800-53750800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:53741000-53752000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:53745800-53753000	Enhancers	HepG2	liver
4	chr15:53747000-53750600	Weak transcription	Pancreas	Pancrea
5	chr15:53748400-53753600	Weak transcription	Liver	Liver
6	chr15:53749200-53750200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr15:53749200-53750800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr15:53749400-53750200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr15:53749400-53750400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:53749400-53750600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr15:53750600-53751400	Enhancers	Pancreas	Pancrea
12	chr15:53750800-53751200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:53751400-53754400	Weak transcription	Pancreas	Pancrea
14	chr15:53753000-53755200	Weak transcription	Stomach Mucosa	stomach
15	chr15:53753600-53754200	ZNF genes & repeats	Liver	Liver
16	chr15:53754400-53755200	Enhancers	Pancreas	Pancrea
17	chr15:53754800-53755600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr15:53755200-53755400	Enhancers	Stomach Mucosa	stomach
19	chr15:53762000-53762600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:53762600-53763400	Enhancers	NH-A	brain
21	chr15:53762600-53765000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:53764800-53765400	Enhancers	Liver	Liver
23	chr15:53764800-53767400	Enhancers	HepG2	liver
24	chr15:53765000-53765400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:53765000-53765400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:53765000-53766400	Enhancers	Pancreas	Pancrea
27	chr15:53765400-53765600	Flanking Active TSS	Liver	Liver
28	chr15:53765600-53766000	Enhancers	Liver	Liver
29	chr15:53766000-53766400	Flanking Active TSS	Liver	Liver

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