Variant report

Variant	esv3311435
Chromosome Location	chr15:77996611-77997045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77996121..77999450-chr15:78013163..78015366,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574130944	chr15:77996657-77996658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373072480	chr15:77996660-77996661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58139537	chr15:77996662-77996663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188720307	chr15:77996680-77996681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193171843	chr15:77996681-77996682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545024841	chr15:77996685-77996686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540430566	chr15:77996689-77996690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529709799	chr15:77996695-77996696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527794070	chr15:77996696-77996697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543063074	chr15:77996699-77996700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561226429	chr15:77996704-77996705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56370262	chr15:77996708-77996709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549984019	chr15:77996716-77996717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571591164	chr15:77996718-77996719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532418076	chr15:77996728-77996729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185070517	chr15:77996729-77996730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565628139	chr15:77996731-77996732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535967710	chr15:77996735-77996736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554695735	chr15:77996751-77996752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569640453	chr15:77996801-77996802	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs538078119	chr15:77996866-77996867	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546407651	chr15:77996877-77996878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs374268544	chr15:77996881-77996882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577932940	chr15:77996896-77996897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs188286029	chr15:77996905-77996906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs191517448	chr15:77996907-77996908	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572453283	chr15:77996908-77996909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs75457897	chr15:77996912-77996913	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561464812	chr15:77996945-77996946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs35746992	chr15:77996984-77996985	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115588700	chr15:77996986-77996987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565037014	chr15:77996994-77996995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548816199	chr15:77997003-77997004	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs116151897	chr15:77997016-77997017	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs547664592	chr15:77997017-77997018	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs565832855	chr15:77997035-77997036	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Intellectual disability	22102821	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
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77969200-78007600	Weak transcription	Right Atrium	heart
2	chr15:77992200-77998800	Weak transcription	Brain Angular Gyrus	brain
3	chr15:77992200-77999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:77992200-78002200	Weak transcription	Fetal Brain Male	brain
5	chr15:77994800-78002000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:77995400-77996800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:77995400-78004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:77996800-77997000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:77997000-77997200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:77997000-77997600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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