Variant report

Variant	esv3443900
Chromosome Location	chr15:44501997-44502793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564523222	chr15:44502083-44502084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533371177	chr15:44502096-44502097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543826996	chr15:44502097-44502098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564021124	chr15:44502133-44502134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529542119	chr15:44502179-44502180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549589364	chr15:44502187-44502188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs5812272	chr15:44502224-44502225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566159915	chr15:44502242-44502243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139193759	chr15:44502257-44502258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs870161	chr15:44502266-44502267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs181981644	chr15:44502368-44502369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536689950	chr15:44502442-44502443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556517549	chr15:44502474-44502475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567585159	chr15:44502497-44502498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141604782	chr15:44502528-44502529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573349385	chr15:44502551-44502552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572954411	chr15:44502556-44502557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552963183	chr15:44502568-44502569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200941220	chr15:44502584-44502585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545179895	chr15:44502596-44502597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558321624	chr15:44502660-44502661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117831134	chr15:44502747-44502748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72431741	chr15:44502754-44502755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200728650	chr15:44502757-44502758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77686762	chr15:44502780-44502781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199535021	chr15:44502790-44502791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Oral squamous cell carcinoma	17134496	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
Renal cell carcinoma	18765545	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
Mental retardation	17124404	CNVD
Melanoma	17363583	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44500000-44502400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:44500400-44507200	Weak transcription	NHDF-Ad	bronchial
3	chr15:44501200-44502000	Enhancers	NH-A	brain
4	chr15:44501400-44502200	Enhancers	Fetal Heart	heart
5	chr15:44501400-44507600	Weak transcription	A549	lung
6	chr15:44501600-44507000	Weak transcription	HUVEC	blood vessel
7	chr15:44502000-44507000	Weak transcription	NH-A	brain
8	chr15:44502400-44502600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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