Variant report

Variant	esv3402185
Chromosome Location	chr15:45068716-45069248
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	chr15:44956051..44957659-chr15:45067545..45070010,2	K562	blood:
2	chr15:45068193..45071978-chr15:45073632..45077696,5	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375276867	chr15:45068746-45068747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370041453	chr15:45068770-45068771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7176310	chr15:45068805-45068806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs147211199	chr15:45068814-45068815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57133151	chr15:45068820-45068821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56962247	chr15:45068821-45068822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112970091	chr15:45068825-45068826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58799734	chr15:45068829-45068830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575657774	chr15:45068833-45068834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369141689	chr15:45068850-45068851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201340440	chr15:45068852-45068853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138038318	chr15:45068904-45068905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554496415	chr15:45068915-45068916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372506934	chr15:45068918-45068919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144274102	chr15:45068935-45068936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146865386	chr15:45068954-45068955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373481842	chr15:45068972-45068973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7496955	chr15:45069023-45069024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7497187	chr15:45069033-45069034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138188114	chr15:45069034-45069035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550416634	chr15:45069035-45069036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7496960	chr15:45069043-45069044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7496961	chr15:45069054-45069055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7496962	chr15:45069068-45069069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7497003	chr15:45069071-45069072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187135980	chr15:45069076-45069077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545493803	chr15:45069080-45069081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141049962	chr15:45069085-45069086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143300396	chr15:45069086-45069087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373452697	chr15:45069140-45069141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531325711	chr15:45069152-45069153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114465927	chr15:45069157-45069158	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45047600-45076000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:45057200-45076000	Weak transcription	Brain Anterior Caudate	brain
3	chr15:45068200-45069000	Enhancers	Fetal Muscle Trunk	muscle
4	chr15:45068400-45072600	Weak transcription	Brain Substantia Nigra	brain
5	chr15:45068400-45073000	Weak transcription	Brain Angular Gyrus	brain
6	chr15:45068600-45072600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:45068600-45072800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:45068600-45073600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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