Variant report

Variant	esv3339630
Chromosome Location	chr15:92199248-92200246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570674936	chr15:92199254-92199255	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538168101	chr15:92199362-92199363	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565712992	chr15:92199429-92199430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74473416	chr15:92199454-92199455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201411560	chr15:92199559-92199560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180977356	chr15:92199587-92199588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571655961	chr15:92199638-92199639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533202021	chr15:92199652-92199653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557288434	chr15:92199697-92199698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574319417	chr15:92199710-92199711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543322510	chr15:92199752-92199753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150405660	chr15:92199794-92199795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138117570	chr15:92199830-92199831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185443137	chr15:92199832-92199833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190020529	chr15:92199851-92199852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181469624	chr15:92199896-92199897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367832619	chr15:92199918-92199919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544954590	chr15:92199941-92199942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149124637	chr15:92199957-92199958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535644028	chr15:92199977-92199978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543567430	chr15:92199997-92199998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78943265	chr15:92200036-92200037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114773429	chr15:92200119-92200120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370318436	chr15:92200127-92200128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548859743	chr15:92200132-92200133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373604730	chr15:92200134-92200135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565649367	chr15:92200170-92200171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35228350	chr15:92200202-92200203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61651457	chr15:92200204-92200205	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186998131	chr15:92200223-92200224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551508745	chr15:92200225-92200226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571681367	chr15:92200231-92200232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537135409	chr15:92200238-92200239	Weak transcription Enhancers	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
Breast cancer	21364760	CNVD
Schizophrenia	17989066	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92196400-92199600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:92198600-92200000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:92198800-92199400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:92199000-92200200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:92199000-92203200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:92199200-92199400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr15:92199200-92199400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr15:92199200-92203000	Weak transcription	Dnd41	blood
9	chr15:92199800-92200000	Enhancers	Primary hematopoietic stem cells	blood
10	chr15:92199800-92200600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:92200000-92200400	Enhancers	Brain Substantia Nigra	brain
12	chr15:92200000-92202200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:92200200-92200600	Enhancers	Brain Hippocampus Middle	brain

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