Variant report

Variant	esv2756341
Chromosome Location	chr15:55137170-55157158
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	chr15:55150804..55152762-chr15:55153752..55155795,2	K562	blood:
2	chr15:55150804..55152762-chr15:55153752..55155795,2	K562	blood:

Extended variants
information (count: 183 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs567682181	chr15:55139411-55139412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2899565	chr15:55139422-55139423	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs148384944	chr15:55139424-55139425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143310357	chr15:55139438-55139439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111301660	chr15:55139440-55139441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147101136	chr15:55139482-55139483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557903688	chr15:55139484-55139485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577872451	chr15:55139487-55139488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117823145	chr15:55139502-55139503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560165304	chr15:55139505-55139506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78461184	chr15:55139506-55139507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76642628	chr15:55139532-55139533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143952786	chr15:55139538-55139539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2414383	chr15:55139544-55139545	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551699092	chr15:55139549-55139550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2414384	chr15:55139568-55139569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs60078031	chr15:55139571-55139572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147276910	chr15:55139577-55139578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560049520	chr15:55139634-55139635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567857164	chr15:55139661-55139662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139749302	chr15:55139674-55139675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113794176	chr15:55139688-55139689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190631166	chr15:55139726-55139727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77369973	chr15:55139735-55139736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2414385	chr15:55139748-55139749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs5812784	chr15:55139772-55139773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558764144	chr15:55139781-55139782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577795917	chr15:55139795-55139796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527675722	chr15:55139838-55139839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149358112	chr15:55139840-55139841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554075993	chr15:55139854-55139855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183021955	chr15:55139880-55139881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2414386	chr15:55139887-55139888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10518788	chr15:55139904-55139905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574578880	chr15:55139912-55139913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77072290	chr15:55139923-55139924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76669094	chr15:55139931-55139932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564828339	chr15:55139963-55139964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12905779	chr15:55139964-55139965	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs28363909	chr15:55139971-55139972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561569030	chr15:55139992-55139993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377248294	chr15:55141207-55141208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1879332	chr15:55141265-55141266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs533607224	chr15:55141271-55141272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28625070	chr15:55141292-55141293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189878772	chr15:55141306-55141307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546209746	chr15:55141308-55141309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1879333	chr15:55141309-55141310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10468011	chr15:55141329-55141330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs180824550	chr15:55141406-55141407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD
Cancer	20164919	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55139400-55139800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr15:55139400-55139800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:55139600-55140000	Enhancers	Primary hematopoietic stem cells	blood
4	chr15:55141200-55141400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:55141400-55142400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:55142400-55142600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:55142400-55143200	Enhancers	Gastric	stomach
8	chr15:55155200-55155800	Enhancers	Fetal Muscle Trunk	muscle

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