Variant report

Variant	esv2421985
Chromosome Location	chr13:38087145-38119096
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	chr13:38102650..38103577-chr2:89203042..89203932,2	MCF-7	breast:
2	chr13:37575595..37577181-chr13:38087888..38090592,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXOSC8-2	chr13:38109077-38109101	XLOC_010349
2	lnc-EXOSC8-2	chr13:38109952-38109988	XLOC_010349

Variant related genes	Relation type
ENSG00000120699	chromatin interactions

Extended variants
information (count: 844 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9315495	chr13:38087145-38087146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562587478	chr13:38087146-38087147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112095562	chr13:38087199-38087200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4943515	chr13:38087204-38087205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4943516	chr13:38087213-38087214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561978133	chr13:38087252-38087253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4943517	chr13:38087259-38087260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547840110	chr13:38087318-38087319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564557692	chr13:38087319-38087320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533308179	chr13:38087362-38087363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529224708	chr13:38087375-38087376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375566628	chr13:38087430-38087431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550349528	chr13:38087515-38087516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570104957	chr13:38087519-38087520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536058364	chr13:38087530-38087531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549236320	chr13:38087538-38087539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75518419	chr13:38087557-38087558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35707939	chr13:38087562-38087563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12429611	chr13:38087567-38087568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370636655	chr13:38087581-38087582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7981077	chr13:38087585-38087586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11839941	chr13:38087612-38087613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188091495	chr13:38087645-38087646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146708816	chr13:38087671-38087672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542068758	chr13:38087674-38087675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561942236	chr13:38087703-38087704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140282618	chr13:38087777-38087778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73180693	chr13:38087879-38087880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564373135	chr13:38087926-38087927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs180740363	chr13:38087931-38087932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7317984	chr13:38088108-38088109	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563822885	chr13:38088127-38088128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529441531	chr13:38088157-38088158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529731185	chr13:38088184-38088185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549197812	chr13:38088390-38088391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566020826	chr13:38088458-38088459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368464080	chr13:38088460-38088461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528803355	chr13:38088495-38088496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs9576285	chr13:38088501-38088502	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570312179	chr13:38088503-38088504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73180694	chr13:38088506-38088507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555957521	chr13:38088540-38088541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569761385	chr13:38088542-38088543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564212173	chr13:38088546-38088547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555641140	chr13:38088592-38088593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143347409	chr13:38088606-38088607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9576286	chr13:38088609-38088610	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148339104	chr13:38088610-38088611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187408570	chr13:38088645-38088646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191826561	chr13:38088651-38088652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38084400-38088600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:38089400-38090000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:38089600-38090000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:38098400-38099000	Enhancers	NHDF-Ad	bronchial
5	chr13:38098600-38098800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:38098600-38099000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:38098600-38099000	Enhancers	NHEK	skin
8	chr13:38098800-38100800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:38099000-38100200	Weak transcription	NHDF-Ad	bronchial
10	chr13:38100000-38100200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:38100000-38103800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:38100200-38101200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:38100200-38102400	Enhancers	NHDF-Ad	bronchial
14	chr13:38100400-38102600	Enhancers	Osteobl	bone
15	chr13:38100600-38101400	Enhancers	NHLF	lung
16	chr13:38100600-38102400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:38100800-38102000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:38101200-38102400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:38102000-38104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:38102400-38105200	Weak transcription	NHDF-Ad	bronchial
21	chr13:38102600-38103400	Weak transcription	Osteobl	bone
22	chr13:38103400-38103600	Enhancers	Osteobl	bone
23	chr13:38103600-38104200	Weak transcription	Osteobl	bone
24	chr13:38103600-38104400	Enhancers	Fetal Muscle Leg	muscle
25	chr13:38103800-38104200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:38104000-38104400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:38104200-38104400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:38104200-38104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:38104200-38104600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:38104200-38105000	Enhancers	Osteobl	bone
31	chr13:38104400-38105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:38104400-38108400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:38104600-38105000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:38105000-38105800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:38105000-38107400	Weak transcription	Osteobl	bone
36	chr13:38105000-38107800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:38105200-38105800	ZNF genes & repeats	NHDF-Ad	bronchial
38	chr13:38105400-38105600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:38105400-38105800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:38105600-38115000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:38105800-38106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:38105800-38107000	Weak transcription	NHDF-Ad	bronchial
43	chr13:38105800-38108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:38106800-38109200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:38107400-38109200	Enhancers	Osteobl	bone
46	chr13:38107600-38108000	Weak transcription	NHDF-Ad	bronchial
47	chr13:38107600-38108600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr13:38107800-38108600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:38108000-38108400	Enhancers	NHDF-Ad	bronchial
50	chr13:38108000-38109200	Enhancers	NH-A	brain

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