Variant report

Variant	nsv1041582
Chromosome Location	chr15:92879844-92910306
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:92892839..92895614-chr15:92946773..92948741,2	MCF-7	breast:
2	chr15:92889203..92891367-chr15:92893500..92895235,2	MCF-7	breast:
3	chr15:92884773..92886274-chr15:92888698..92890623,2	K562	blood:
4	chr15:92870058..92873029-chr15:92881662..92883918,2	MCF-7	breast:
5	chr15:92903747..92906655-chr15:92971730..92974198,2	K562	blood:
6	chr15:92884773..92886274-chr15:92888698..92890623,2	K562	blood:
7	chr15:92898239..92900307-chr15:92910127..92912158,2	MCF-7	breast:
8	chr15:92889203..92891367-chr15:92893500..92895235,2	MCF-7	breast:
9	chr15:92898239..92900307-chr15:92910127..92912158,2	MCF-7	breast:

No data

Extended variants
information (count: 1007 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1007 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79494065	chr15:92884027-92884028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186773212	chr15:92884037-92884038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76796347	chr15:92884046-92884047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556942618	chr15:92884082-92884083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374542345	chr15:92884095-92884096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541272617	chr15:92884140-92884141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191626748	chr15:92884179-92884180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536563719	chr15:92884181-92884182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552293050	chr15:92884183-92884184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377478211	chr15:92884200-92884201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564119456	chr15:92884213-92884214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182365874	chr15:92884220-92884221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553203021	chr15:92884223-92884224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573080509	chr15:92884243-92884244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369237388	chr15:92884267-92884268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545480523	chr15:92884275-92884276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549711993	chr15:92884292-92884293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565226931	chr15:92884306-92884307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532158977	chr15:92884316-92884317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386786525	chr15:92884319-92884320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575741966	chr15:92884320-92884321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs899527	chr15:92884332-92884333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140720455	chr15:92884336-92884337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs899528	chr15:92884347-92884348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145874282	chr15:92884373-92884374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138430890	chr15:92884374-92884375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532556916	chr15:92884415-92884416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs899529	chr15:92884421-92884422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187422022	chr15:92884448-92884449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537182991	chr15:92884461-92884462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373492450	chr15:92884468-92884469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142932288	chr15:92884480-92884481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567274109	chr15:92884488-92884489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144309215	chr15:92884501-92884502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553316348	chr15:92884507-92884508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73539798	chr15:92884517-92884518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56207664	chr15:92884528-92884529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576081361	chr15:92884572-92884573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141445549	chr15:92884584-92884585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575635290	chr15:92884594-92884595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544707803	chr15:92884657-92884658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561098090	chr15:92884685-92884686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139841342	chr15:92884686-92884687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540270287	chr15:92884690-92884691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560408710	chr15:92884730-92884731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532693954	chr15:92884741-92884742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7182414	chr15:92884777-92884778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563110430	chr15:92884799-92884800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145304929	chr15:92884806-92884807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79966826	chr15:92884820-92884821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92884000-92884200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:92884200-92886800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:92885200-92885400	Enhancers	Fetal Brain Male	brain
4	chr15:92885400-92886600	Weak transcription	Fetal Brain Male	brain
5	chr15:92885600-92889200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:92885800-92886800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:92885800-92887000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr15:92885800-92891800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:92886000-92886200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr15:92886000-92886600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr15:92886000-92887200	Enhancers	Brain Germinal Matrix	brain
12	chr15:92886000-92888000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr15:92886000-92888800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:92886200-92886600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:92886200-92888800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr15:92886400-92887000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr15:92886600-92887000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:92886600-92887400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr15:92886600-92887400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
20	chr15:92886600-92887400	Bivalent Enhancer	Brain Hippocampus Middle	brain
21	chr15:92886600-92887400	Enhancers	Fetal Brain Female	brain
22	chr15:92886600-92888800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr15:92886600-92888800	Enhancers	Fetal Brain Male	brain
24	chr15:92886800-92887000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:92886800-92887200	Bivalent Enhancer	Brain Angular Gyrus	brain
26	chr15:92886800-92887600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:92886800-92887600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:92886800-92887600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
29	chr15:92886800-92887600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr15:92886800-92888000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr15:92886800-92888200	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr15:92886800-92888400	Bivalent Enhancer	Brain Substantia Nigra	brain
33	chr15:92886800-92888600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr15:92887000-92887800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:92887000-92888000	Enhancers	Colon Smooth Muscle	Colon
36	chr15:92887000-92888000	Enhancers	Left Ventricle	heart
37	chr15:92887000-92888200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:92887000-92888200	Bivalent Enhancer	Brain Anterior Caudate	brain
39	chr15:92887000-92888400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr15:92887000-92888400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr15:92887000-92888400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr15:92887000-92888400	Enhancers	Right Ventricle	heart
43	chr15:92887000-92888600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
44	chr15:92887000-92888600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
45	chr15:92887000-92890600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:92887200-92887400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:92887200-92887400	Bivalent Enhancer	HSMMtube	muscle
48	chr15:92887200-92887600	Enhancers	Brain Angular Gyrus	brain
49	chr15:92887200-92887800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:92887200-92888000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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