Variant report

Variant	esv3488171
Chromosome Location	chr15:45142060-45146958
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	chr15:45145307..45146142-chr15:45409718..45410518,2	K562	blood:

Extended variants
information (count: 221 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2689299	chr15:45142075-45142076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374414783	chr15:45142105-45142106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375108418	chr15:45142106-45142107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1288099	chr15:45142168-45142169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553676063	chr15:45142169-45142170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183032006	chr15:45142223-45142224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148688904	chr15:45142313-45142314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539060856	chr15:45142329-45142330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201115776	chr15:45142341-45142342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1288100	chr15:45142377-45142378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554029200	chr15:45142389-45142390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116119187	chr15:45142399-45142400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544675344	chr15:45142402-45142403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8026050	chr15:45142419-45142420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs574729816	chr15:45142441-45142442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540637540	chr15:45142442-45142443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2948904	chr15:45142480-45142481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560430559	chr15:45142517-45142518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2689300	chr15:45142520-45142521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2689301	chr15:45142522-45142523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55833848	chr15:45142524-45142525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552170345	chr15:45142576-45142577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562312405	chr15:45142593-45142594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1288101	chr15:45142627-45142628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141574120	chr15:45142659-45142660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8026423	chr15:45142662-45142663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530273487	chr15:45142701-45142702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs8027024	chr15:45142707-45142708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148257441	chr15:45142732-45142733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538936965	chr15:45142749-45142750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558918865	chr15:45142786-45142787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148355956	chr15:45142811-45142812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538238079	chr15:45142827-45142828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140531498	chr15:45142843-45142844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555138545	chr15:45142877-45142878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187678291	chr15:45142910-45142911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540448889	chr15:45142915-45142916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553656627	chr15:45142961-45142962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200285790	chr15:45142998-45142999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374749012	chr15:45143015-45143016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562148231	chr15:45143063-45143064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs137936334	chr15:45143120-45143121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541416513	chr15:45143151-45143152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142397993	chr15:45143176-45143177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527365938	chr15:45143177-45143178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117188349	chr15:45143260-45143261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375858333	chr15:45143293-45143294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566920061	chr15:45143360-45143361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2576071	chr15:45143372-45143373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138357258	chr15:45143435-45143436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45137800-45145200	Weak transcription	Pancreas	Pancrea
2	chr15:45141000-45142200	Enhancers	HepG2	liver
3	chr15:45141200-45145600	Enhancers	HUVEC	blood vessel
4	chr15:45141800-45142200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr15:45141800-45142200	Enhancers	Lung	lung
6	chr15:45142000-45144400	Weak transcription	Liver	Liver
7	chr15:45142200-45143800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:45142200-45143800	Weak transcription	HepG2	liver
9	chr15:45143800-45145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr15:45143800-45145400	Enhancers	HepG2	liver
11	chr15:45144400-45147200	Enhancers	Liver	Liver
12	chr15:45144600-45145400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr15:45144600-45146000	Enhancers	K562	blood
14	chr15:45145200-45145800	Enhancers	Pancreas	Pancrea
15	chr15:45145400-45145800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr15:45145400-45145800	Enhancers	Stomach Mucosa	stomach
17	chr15:45145400-45146200	Flanking Active TSS	HepG2	liver
18	chr15:45145600-45145800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr15:45145600-45146000	Enhancers	Brain Hippocampus Middle	brain
20	chr15:45145600-45146200	Enhancers	Brain Anterior Caudate	brain
21	chr15:45145600-45147200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr15:45145800-45146000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr15:45145800-45146000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr15:45145800-45146000	Active TSS	NHDF-Ad	bronchial
25	chr15:45145800-45146200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:45145800-45146200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr15:45145800-45146200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr15:45145800-45146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:45145800-45146200	Active TSS	A549	lung
30	chr15:45145800-45146200	Enhancers	Hela-S3	cervix
31	chr15:45146000-45146200	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr15:45146000-45146200	Flanking Active TSS	NHDF-Ad	bronchial
33	chr15:45146000-45146600	Enhancers	Primary B cells from cord blood	blood
34	chr15:45146000-45147000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr15:45146000-45153200	Weak transcription	K562	blood
36	chr15:45146200-45147200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr15:45146200-45147600	Enhancers	HepG2	liver

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