Variant report

Variant	nsv522673
Chromosome Location	chr15:83565711-83570114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:83568668-83568793	K562	blood:	n/a	n/a
2	FOS	chr15:83569369-83569443	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA1	chr15:83569841-83570221	HepG2	liver:	n/a	n/a
4	FOXA1	chr15:83569923-83570333	HepG2	liver:	n/a	n/a
5	FOXA1	chr15:83569908-83570305	HepG2	liver:	n/a	n/a
6	FOXA2	chr15:83569905-83570229	HepG2	liver:	n/a	n/a
7	SMC3	chr15:83570085-83570091	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83564369..83566248-chr15:83586818..83589163,2	K562	blood:

Variant related genes	Relation type
HOMER2	TF binding region

Extended variants
information (count: 191 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17158168	chr15:83565711-83565712	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567797338	chr15:83565744-83565745	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536883269	chr15:83565745-83565746	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192443954	chr15:83565758-83565759	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182537698	chr15:83565787-83565788	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576892500	chr15:83565790-83565791	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370096528	chr15:83565814-83565815	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577076483	chr15:83565817-83565818	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs68038013	chr15:83565818-83565819	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59860815	chr15:83565828-83565829	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs398043537	chr15:83565837-83565838	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558924572	chr15:83565858-83565859	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543937540	chr15:83565860-83565861	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572321760	chr15:83565962-83565963	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186981593	chr15:83565967-83565968	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555142724	chr15:83565975-83565976	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372912576	chr15:83566006-83566007	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542189352	chr15:83566007-83566008	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191451446	chr15:83566029-83566030	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544036111	chr15:83566046-83566047	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563694111	chr15:83566050-83566051	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs8031927	chr15:83566061-83566062	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552520206	chr15:83566082-83566083	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145150278	chr15:83566094-83566095	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8036957	chr15:83566105-83566106	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12437540	chr15:83566130-83566131	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150947420	chr15:83566156-83566157	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547770585	chr15:83566163-83566164	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78109548	chr15:83566196-83566197	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530475673	chr15:83566213-83566214	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs182536952	chr15:83566274-83566275	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570517898	chr15:83566307-83566308	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs11856497	chr15:83566327-83566328	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546613921	chr15:83566384-83566385	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566751877	chr15:83566494-83566495	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535066463	chr15:83566495-83566496	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554957066	chr15:83566496-83566497	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375274225	chr15:83566572-83566573	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530716559	chr15:83566652-83566653	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73446972	chr15:83566668-83566669	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552056876	chr15:83566708-83566709	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557555940	chr15:83566719-83566720	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187239526	chr15:83566722-83566723	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149666153	chr15:83566727-83566728	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145668231	chr15:83566728-83566729	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549968939	chr15:83566773-83566774	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573194406	chr15:83566786-83566787	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11259959	chr15:83566796-83566797	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs535650592	chr15:83566823-83566824	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574524364	chr15:83566825-83566826	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83524600-83567800	Weak transcription	Left Ventricle	heart
2	chr15:83540600-83573200	Weak transcription	Right Atrium	heart
3	chr15:83541000-83566200	Weak transcription	Spleen	Spleen
4	chr15:83542400-83567200	Weak transcription	Brain Angular Gyrus	brain
5	chr15:83543600-83567600	Weak transcription	Aorta	Aorta
6	chr15:83558400-83569600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:83558600-83566600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:83558600-83567800	Weak transcription	Psoas Muscle	Psoas
9	chr15:83559600-83570200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:83560400-83570200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:83561400-83566200	Weak transcription	Liver	Liver
12	chr15:83564200-83569400	Weak transcription	HepG2	liver
13	chr15:83564400-83566400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr15:83564400-83566600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:83564400-83568000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:83564400-83569400	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:83564400-83569600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:83564400-83569800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:83564600-83566600	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:83564600-83569400	Weak transcription	HSMM	muscle
21	chr15:83565000-83566200	Genic enhancers	Pancreas	Pancrea
22	chr15:83565000-83566600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:83565200-83565800	Enhancers	Gastric	stomach
24	chr15:83565400-83567800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr15:83565400-83568800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:83565600-83566000	Weak transcription	HSMMtube	muscle
27	chr15:83565600-83567800	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:83565800-83566200	Weak transcription	Gastric	stomach
29	chr15:83566000-83568000	Enhancers	HSMMtube	muscle
30	chr15:83566200-83566400	Enhancers	Pancreas	Pancrea
31	chr15:83566200-83566400	Active TSS	Spleen	Spleen
32	chr15:83566200-83566800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr15:83566200-83566800	Enhancers	Gastric	stomach
34	chr15:83566200-83568200	Enhancers	Liver	Liver
35	chr15:83566400-83568200	Genic enhancers	Pancreas	Pancrea
36	chr15:83566400-83568200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr15:83566600-83566800	Enhancers	Colon Smooth Muscle	Colon
38	chr15:83566600-83567000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:83566600-83567400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:83566600-83568000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:83566600-83568200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:83566800-83569600	Weak transcription	Gastric	stomach
43	chr15:83567000-83567200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr15:83567000-83569200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:83567200-83567400	Enhancers	Brain Angular Gyrus	brain
46	chr15:83567200-83567600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr15:83567400-83567600	Enhancers	Brain Germinal Matrix	brain
48	chr15:83567600-83570000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr15:83567800-83568200	Enhancers	Fetal Muscle Trunk	muscle
50	chr15:83567800-83568200	Enhancers	Fetal Muscle Leg	muscle

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