Variant report

Variant	nsv1049712
Chromosome Location	chr15:92857342-92871780
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:92870058..92873029-chr15:92881662..92883918,2	MCF-7	breast:
2	chr15:92861975..92865817-chr15:92867403..92870392,3	K562	blood:
3	chr15:92861975..92865817-chr15:92867403..92870392,3	K562	blood:
4	chr15:92853320..92856226-chr15:92856616..92859409,3	K562	blood:
5	chr15:92861975..92863724-chr15:92867403..92869421,2	K562	blood:
6	chr15:92856081..92858530-chr15:92868299..92870016,2	MCF-7	breast:
7	chr15:92861975..92863724-chr15:92867403..92869421,2	K562	blood:
8	chr15:92641211..92642778-chr15:92858700..92860218,2	MCF-7	breast:
9	chr15:92856081..92858530-chr15:92868299..92870016,2	MCF-7	breast:
10	chr15:92866295..92868528-chr15:92870183..92872816,2	K562	blood:
11	chr15:92866295..92868528-chr15:92870183..92872816,2	K562	blood:

No data

Extended variants
information (count: 559 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576260402	chr15:92857660-92857661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74743458	chr15:92857686-92857687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543947824	chr15:92857717-92857718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554669191	chr15:92857748-92857749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61238548	chr15:92857765-92857766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540232006	chr15:92857860-92857861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560441599	chr15:92857888-92857889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532444593	chr15:92857959-92857960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147265893	chr15:92857996-92857997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562657197	chr15:92858000-92858001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139053429	chr15:92858001-92858002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548367689	chr15:92858002-92858003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547976380	chr15:92858015-92858016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61212227	chr15:92858019-92858020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527647985	chr15:92858051-92858052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62009317	chr15:92858057-92858058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142984474	chr15:92858096-92858097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147438831	chr15:92858099-92858100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12912184	chr15:92858101-92858102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
20	rs57775430	chr15:92858184-92858185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397974497	chr15:92858185-92858186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80123680	chr15:92858264-92858265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530184704	chr15:92858265-92858266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569885417	chr15:92858283-92858284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148481400	chr15:92858335-92858336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552743531	chr15:92858340-92858341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79929066	chr15:92858347-92858348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566850549	chr15:92858350-92858351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116169928	chr15:92858410-92858411	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs16946712	chr15:92858431-92858432	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564766859	chr15:92858441-92858442	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs58177370	chr15:92858452-92858453	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs16946714	chr15:92858468-92858469	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546098964	chr15:92858496-92858497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562794740	chr15:92858520-92858521	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs150562984	chr15:92858579-92858580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576124279	chr15:92858689-92858690	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189726053	chr15:92858710-92858711	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576723491	chr15:92858736-92858737	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs16946715	chr15:92858751-92858752	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139554551	chr15:92858763-92858764	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs565452252	chr15:92858769-92858770	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs547516942	chr15:92858776-92858777	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564114976	chr15:92858801-92858802	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs114650499	chr15:92858827-92858828	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs550025126	chr15:92858830-92858831	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs143285272	chr15:92858850-92858851	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146689938	chr15:92858853-92858854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs549550464	chr15:92858858-92858859	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566182439	chr15:92858867-92858868	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92857600-92858200	Enhancers	Fetal Brain Male	brain
2	chr15:92858200-92858400	Enhancers	Fetal Heart	heart
3	chr15:92858200-92859200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr15:92858200-92860400	Enhancers	Left Ventricle	heart
5	chr15:92858200-92860400	Enhancers	Right Ventricle	heart
6	chr15:92858200-92860600	Weak transcription	Fetal Brain Male	brain
7	chr15:92858400-92858600	Enhancers	Right Atrium	heart
8	chr15:92858400-92859400	Flanking Active TSS	Fetal Heart	heart
9	chr15:92858600-92869800	Weak transcription	Right Atrium	heart
10	chr15:92859000-92859400	Enhancers	Ovary	ovary
11	chr15:92859200-92859400	Enhancers	Colon Smooth Muscle	Colon
12	chr15:92859400-92860600	Enhancers	Fetal Heart	heart
13	chr15:92859600-92860800	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:92860200-92860400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr15:92860600-92862000	Enhancers	Fetal Brain Male	brain
16	chr15:92860800-92861800	Enhancers	Colon Smooth Muscle	Colon
17	chr15:92861400-92861600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:92861600-92862800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:92862000-92863400	Weak transcription	Fetal Brain Male	brain
20	chr15:92862800-92864800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:92863400-92863800	Enhancers	Fetal Lung	lung
22	chr15:92863400-92868200	Enhancers	Fetal Brain Male	brain
23	chr15:92863800-92865600	Weak transcription	Fetal Lung	lung
24	chr15:92864400-92864800	Enhancers	Adipose Nuclei	Adipose
25	chr15:92864600-92865000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:92864800-92869600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:92865200-92866000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:92865200-92867800	Enhancers	Fetal Brain Female	brain
29	chr15:92865400-92865800	Enhancers	Brain Germinal Matrix	brain
30	chr15:92865600-92865800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
31	chr15:92865600-92866200	Bivalent Enhancer	Brain Angular Gyrus	brain
32	chr15:92865600-92866200	Bivalent Enhancer	Brain Hippocampus Middle	brain
33	chr15:92865600-92866400	Enhancers	Fetal Lung	lung
34	chr15:92865600-92866600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:92865600-92866600	Enhancers	Fetal Muscle Trunk	muscle
36	chr15:92865600-92867600	Enhancers	Brain Cingulate Gyrus	brain
37	chr15:92865800-92866000	Enhancers	Brain Substantia Nigra	brain
38	chr15:92865800-92866000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr15:92865800-92866600	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr15:92865800-92866800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr15:92865800-92867000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr15:92865800-92868000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr15:92865800-92868000	Enhancers	Fetal Muscle Leg	muscle
44	chr15:92865800-92868200	Enhancers	Fetal Stomach	stomach
45	chr15:92866200-92866400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr15:92866200-92866400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
47	chr15:92866200-92867600	Enhancers	Brain Hippocampus Middle	brain
48	chr15:92866400-92866600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
49	chr15:92866400-92866600	Flanking Active TSS	Fetal Lung	lung
50	chr15:92866400-92866600	Enhancers	Ovary	ovary

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