Variant report

Variant	nsv1054695
Chromosome Location	chr15:53522035-53594749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:53558558..53561044-chr15:53583643..53585319,2	MCF-7	breast:
2	chr15:53579873..53581442-chr15:53608994..53611608,2	MCF-7	breast:
3	chr15:53572412..53572932-chr17:80250741..80251267,2	Hela-S3	cervix:
4	chr15:53563974..53565633-chr15:53567416..53569444,2	K562	blood:
5	chr15:53072417..53073407-chr15:53544030..53544664,2	MCF-7	breast:
6	chr15:53563974..53565633-chr15:53567416..53569444,2	K562	blood:
7	chr15:53558558..53561044-chr15:53583643..53585319,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169856	chromatin interactions

Extended variants
information (count: 2195 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2195 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549390735	chr15:53522044-53522045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183997005	chr15:53522099-53522100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141998042	chr15:53522106-53522107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74013412	chr15:53522110-53522111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs72735318	chr15:53522119-53522120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188387643	chr15:53522122-53522123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557298328	chr15:53522138-53522139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534396851	chr15:53522165-53522166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192185650	chr15:53522173-53522174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28566909	chr15:53522213-53522214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147803803	chr15:53522217-53522218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555369273	chr15:53522229-53522230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4774656	chr15:53522246-53522247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543944284	chr15:53522280-53522281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557433165	chr15:53522318-53522319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577389333	chr15:53522321-53522322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540053302	chr15:53522322-53522323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4774657	chr15:53522347-53522348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529213807	chr15:53522352-53522353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542650805	chr15:53522361-53522362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562940446	chr15:53522433-53522434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145039755	chr15:53522439-53522440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551855220	chr15:53522441-53522442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112449292	chr15:53522468-53522469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190519023	chr15:53522469-53522470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548004836	chr15:53522477-53522478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567842969	chr15:53522500-53522501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147574352	chr15:53522531-53522532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555059963	chr15:53522538-53522539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568787330	chr15:53522541-53522542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148841994	chr15:53522543-53522544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372304695	chr15:53522552-53522553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371238988	chr15:53522621-53522622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537468844	chr15:53522628-53522629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118093501	chr15:53522637-53522638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149027104	chr15:53522652-53522653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533713485	chr15:53522681-53522682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4545759	chr15:53522820-53522821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143836878	chr15:53522908-53522909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542864904	chr15:53522927-53522928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151107159	chr15:53522951-53522952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182352243	chr15:53522996-53522997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62023588	chr15:53523009-53523010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573349252	chr15:53523059-53523060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186134024	chr15:53523093-53523094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73408008	chr15:53523148-53523149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188290433	chr15:53523155-53523156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529624750	chr15:53523172-53523173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530242189	chr15:53523185-53523186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10775152	chr15:53523231-53523232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53520200-53524800	Weak transcription	HepG2	liver
2	chr15:53524800-53526000	Enhancers	HepG2	liver
3	chr15:53527400-53527600	Enhancers	Pancreas	Pancrea
4	chr15:53527600-53528200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:53527600-53542400	Weak transcription	Pancreas	Pancrea
6	chr15:53528200-53528400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:53538600-53538800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:53538600-53539800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:53538600-53540400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:53538800-53546200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:53539000-53540200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:53539400-53540000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:53539800-53540200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:53539800-53540200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:53539800-53540400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:53539800-53540400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:53542400-53542600	Enhancers	Pancreas	Pancrea
18	chr15:53542600-53543000	Weak transcription	Pancreas	Pancrea
19	chr15:53543000-53543200	Enhancers	Pancreas	Pancrea
20	chr15:53543200-53544200	Weak transcription	Pancreas	Pancrea
21	chr15:53543200-53545000	Enhancers	Liver	Liver
22	chr15:53544000-53544200	Enhancers	HepG2	liver
23	chr15:53544200-53544600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr15:53544200-53544600	Enhancers	Pancreas	Pancrea
25	chr15:53544200-53544600	Flanking Active TSS	HepG2	liver
26	chr15:53544200-53545000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr15:53544600-53544800	Enhancers	HepG2	liver
28	chr15:53544800-53549000	Weak transcription	HepG2	liver
29	chr15:53545000-53548800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:53546200-53547000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:53548200-53549200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr15:53548400-53549000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:53548400-53549200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:53548600-53549000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr15:53548800-53549200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr15:53549000-53549400	Enhancers	HepG2	liver
37	chr15:53549400-53549600	Weak transcription	HepG2	liver
38	chr15:53549600-53550000	Enhancers	HepG2	liver
39	chr15:53557200-53559400	Enhancers	Liver	Liver
40	chr15:53560600-53561400	Enhancers	Brain Germinal Matrix	brain
41	chr15:53561200-53561800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr15:53561400-53562000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:53562000-53565800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:53564000-53564800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:53564000-53564800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:53564000-53565600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:53564600-53565000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr15:53565800-53567200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:53566200-53566800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:53568800-53570200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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