Variant report

Variant	nsv1047808
Chromosome Location	chr13:38072024-38088921
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	chr13:37575595..37577181-chr13:38087888..38090592,2	K562	blood:

Variant related genes	Relation type
ENSG00000120699	chromatin interactions

Extended variants
information (count: 322 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:322 , 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	rs9566229	chr13:38072024-38072025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73448588	chr13:38072037-38072038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572721144	chr13:38072079-38072080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11310643	chr13:38072085-38072086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190546517	chr13:38072103-38072104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571750602	chr13:38072268-38072269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560134609	chr13:38072293-38072294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532105187	chr13:38072332-38072333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201814023	chr13:38072347-38072348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7992050	chr13:38072349-38072350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73448590	chr13:38072400-38072401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372263414	chr13:38072405-38072406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78823205	chr13:38072442-38072443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563379305	chr13:38072517-38072518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186229473	chr13:38072547-38072548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7332439	chr13:38072647-38072648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190700574	chr13:38072667-38072668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570874708	chr13:38072688-38072689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539848235	chr13:38072703-38072704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572617127	chr13:38072731-38072732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141182172	chr13:38072786-38072787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150668523	chr13:38072788-38072789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548922202	chr13:38072992-38072993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543120774	chr13:38073090-38073091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181515460	chr13:38073106-38073107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185719638	chr13:38073142-38073143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139855592	chr13:38073178-38073179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576476167	chr13:38073229-38073230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564627224	chr13:38073231-38073232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117862651	chr13:38073263-38073264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559595678	chr13:38073299-38073300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565554759	chr13:38073324-38073325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190089318	chr13:38073348-38073349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12871656	chr13:38073371-38073372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531330128	chr13:38073376-38073377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12872874	chr13:38073390-38073391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12872091	chr13:38073396-38073397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12871796	chr13:38073402-38073403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369908579	chr13:38073513-38073514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9532068	chr13:38073542-38073543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143046914	chr13:38073589-38073590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561961122	chr13:38073656-38073657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527591896	chr13:38073660-38073661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547625683	chr13:38073661-38073662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370206697	chr13:38073678-38073679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533712631	chr13:38073690-38073691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149856578	chr13:38073704-38073705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112158678	chr13:38073721-38073722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9547913	chr13:38073738-38073739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554683762	chr13:38073761-38073762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38069600-38073800	Weak transcription	NHLF	lung
2	chr13:38069800-38073200	Weak transcription	Osteobl	bone
3	chr13:38069800-38075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:38070000-38073600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:38070000-38075000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:38073200-38074200	Enhancers	Osteobl	bone
7	chr13:38073600-38074400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:38074200-38076200	Weak transcription	Osteobl	bone
9	chr13:38075000-38076400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:38075200-38075400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:38075600-38075800	Enhancers	NHLF	lung
12	chr13:38076200-38076400	Enhancers	Osteobl	bone
13	chr13:38077400-38077800	Enhancers	Fetal Heart	heart
14	chr13:38079600-38080000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:38083800-38084000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:38083800-38084200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr13:38083800-38084400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:38083800-38084400	Enhancers	Osteobl	bone
19	chr13:38083800-38085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:38083800-38085800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr13:38084000-38084200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:38084000-38084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:38084000-38084200	Flanking Active TSS	NHEK	skin
24	chr13:38084000-38084600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:38084200-38084400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:38084200-38084400	Active TSS	NHEK	skin
27	chr13:38084200-38084600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:38084200-38084600	Enhancers	HMEC	breast
29	chr13:38084400-38084600	Flanking Active TSS	NHEK	skin
30	chr13:38084400-38088600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:38084600-38085600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:38084600-38085600	Enhancers	NHEK	skin
33	chr13:38085200-38085400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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