Variant report

Variant	nsv1037176
Chromosome Location	chr15:54448271-54471548
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	chr15:54467594..54469950-chr8:103818486..103820863,2	MCF-7	breast:
2	chr15:54468684..54471121-chr15:54610190..54612096,2	K562	blood:

Variant related genes	Relation type
ENSG00000253669	chromatin interactions

Extended variants
information (count: 306 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16974167	chr15:54448271-54448272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576991932	chr15:54448305-54448306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142573479	chr15:54448306-54448307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1897058	chr15:54448320-54448321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs573302716	chr15:54448321-54448322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551569678	chr15:54448344-54448345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191287719	chr15:54448380-54448381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562069481	chr15:54448416-54448417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11853378	chr15:54448435-54448436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551316205	chr15:54448441-54448442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537563449	chr15:54448442-54448443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11071051	chr15:54448499-54448500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533663725	chr15:54448528-54448529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546908487	chr15:54448548-54448549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567054091	chr15:54448585-54448586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534455326	chr15:54448593-54448594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183151778	chr15:54448648-54448649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567721600	chr15:54448668-54448669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536623799	chr15:54448671-54448672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113478268	chr15:54448718-54448719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111742024	chr15:54448730-54448731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539716506	chr15:54448733-54448734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75825878	chr15:54448738-54448739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143113544	chr15:54448740-54448741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187826434	chr15:54448748-54448749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147472575	chr15:54448776-54448777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555867276	chr15:54448783-54448784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11854100	chr15:54448803-54448804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148097673	chr15:54448814-54448815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544650707	chr15:54448817-54448818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564485675	chr15:54448859-54448860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141837936	chr15:54448873-54448874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150596051	chr15:54448881-54448882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12592430	chr15:54448899-54448900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560533575	chr15:54448913-54448914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1897057	chr15:54448940-54448941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139612922	chr15:54448954-54448955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567783011	chr15:54448970-54448971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143445460	chr15:54448985-54448986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12592483	chr15:54449016-54449017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146248975	chr15:54449023-54449024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539358098	chr15:54449042-54449043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553185948	chr15:54449045-54449046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566694691	chr15:54449082-54449083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535610506	chr15:54449084-54449085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556565550	chr15:54449089-54449090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1897056	chr15:54449096-54449097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544691066	chr15:54449147-54449148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193137823	chr15:54449152-54449153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577928341	chr15:54449250-54449251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54432200-54451200	Weak transcription	Fetal Lung	lung
2	chr15:54441800-54453200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:54450600-54451200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:54450600-54452600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:54451200-54452000	Enhancers	Fetal Lung	lung
6	chr15:54467600-54468600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:54468000-54468800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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