Variant report

Variant	esv3363652
Chromosome Location	chr13:40199001-40221148
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	chr13:40213625..40215126-chr7:30609921..30612815,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COG6-1	chr13:40214443-40215175	XLOC_010354

Variant related genes	Relation type
ENSG00000196295	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546154966	chr13:40207805-40207806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs557524466	chr13:40207836-40207837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567614163	chr13:40207841-40207842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536269908	chr13:40207877-40207878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs183118501	chr13:40207893-40207894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs554379926	chr13:40207896-40207897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs557523912	chr13:40207899-40207900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572258663	chr13:40207922-40207923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548962502	chr13:40207934-40207935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs58475456	chr13:40207940-40207941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567163860	chr13:40207941-40207942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201208205	chr13:40207945-40207946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs74338195	chr13:40207950-40207951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs55854354	chr13:40207951-40207952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs144927072	chr13:40207952-40207953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs55921660	chr13:40207960-40207961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540975351	chr13:40207969-40207970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369817636	chr13:40207975-40207976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs374013564	chr13:40208004-40208005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557510533	chr13:40208049-40208050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs118159318	chr13:40208109-40208110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187844850	chr13:40208135-40208136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563065367	chr13:40208139-40208140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs528834429	chr13:40208151-40208152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs117400907	chr13:40208163-40208164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs34046485	chr13:40208202-40208203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398022429	chr13:40208212-40208213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559341667	chr13:40208227-40208228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528776222	chr13:40208237-40208238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552129891	chr13:40208264-40208265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567522336	chr13:40208272-40208273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531144407	chr13:40208283-40208284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551064237	chr13:40208294-40208295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192628246	chr13:40208321-40208322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536606108	chr13:40208353-40208354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553080936	chr13:40208379-40208380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536171570	chr13:40208383-40208384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150779701	chr13:40208416-40208417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534591852	chr13:40208417-40208418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557649075	chr13:40208443-40208444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577389462	chr13:40208473-40208474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183584075	chr13:40208486-40208487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556977869	chr13:40208495-40208496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573646501	chr13:40208499-40208500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542752593	chr13:40208538-40208539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529809420	chr13:40208551-40208552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543292528	chr13:40208555-40208556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34249077	chr13:40208556-40208557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559062701	chr13:40208561-40208562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71200118	chr13:40208568-40208569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
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
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
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Glioma	17146433	CNVD
Malignant glioma	17146433	CNVD
Sudden cardiac death	19188705	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40207800-40208200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:40207800-40208200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr13:40208200-40209000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:40208800-40209200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:40208800-40209200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:40208800-40209200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:40208800-40209400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:40208800-40209400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:40208800-40209600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:40208800-40209600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:40209000-40209400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:40209000-40209400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:40209000-40209600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:40209200-40212800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:40211600-40212200	Enhancers	K562	blood
16	chr13:40215000-40215200	Enhancers	Brain Angular Gyrus	brain

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