Variant report

Variant	esv996813
Chromosome Location	chr13:39929705-39937070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PROSER1-2	chr13:39932419-39932543	NONHSAT033302

Extended variants
information (count: 326 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:326 , 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	rs551198298	chr13:39929714-39929715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142819451	chr13:39929755-39929756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180676672	chr13:39929865-39929866	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545612033	chr13:39929868-39929869	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs151000292	chr13:39929900-39929901	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs140886524	chr13:39929933-39929934	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs73451012	chr13:39929935-39929936	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs79895366	chr13:39929938-39929939	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528029286	chr13:39929942-39929943	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546617581	chr13:39929956-39929957	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560195017	chr13:39929979-39929980	Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs75281249	chr13:39930004-39930005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538987175	chr13:39930064-39930065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73451015	chr13:39930084-39930085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549117545	chr13:39930112-39930113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186110031	chr13:39930163-39930164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138824365	chr13:39930204-39930205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573876019	chr13:39930235-39930236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7334522	chr13:39930260-39930261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141378883	chr13:39930261-39930262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536563249	chr13:39930270-39930271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74550916	chr13:39930271-39930272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375410300	chr13:39930294-39930295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148842167	chr13:39930323-39930324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541336857	chr13:39930352-39930353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564707909	chr13:39930370-39930371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77548058	chr13:39930441-39930442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550253978	chr13:39930493-39930494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561194705	chr13:39930508-39930509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146953773	chr13:39930512-39930513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546992175	chr13:39930517-39930518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191032131	chr13:39930522-39930523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538939035	chr13:39930529-39930530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138042959	chr13:39930532-39930533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569148614	chr13:39930533-39930534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181193270	chr13:39930537-39930538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555052862	chr13:39930540-39930541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573890978	chr13:39930580-39930581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536418731	chr13:39930744-39930745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551584164	chr13:39930807-39930808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549450676	chr13:39930842-39930843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553015168	chr13:39930844-39930845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372410757	chr13:39930850-39930851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573121816	chr13:39930885-39930886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185846168	chr13:39930897-39930898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564937448	chr13:39930903-39930904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190606640	chr13:39930927-39930928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2324258	chr13:39930928-39930929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560613847	chr13:39930979-39930980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530250802	chr13:39930991-39930992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	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
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39925200-39936800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:39925200-39938600	Weak transcription	Aorta	Aorta
3	chr13:39926400-39929800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:39928400-39936400	Weak transcription	Left Ventricle	heart
5	chr13:39928400-39939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:39928400-39939000	Weak transcription	Right Atrium	heart
7	chr13:39928600-39929800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:39928800-39938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:39929200-39930000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:39929200-39938800	Weak transcription	Fetal Heart	heart
11	chr13:39929800-39930000	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr13:39929800-39930200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:39933000-39933400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:39933400-39933600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:39933400-39933800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:39933600-39936400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:39933800-39937000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:39936000-39937800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:39936400-39937200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:39936400-39937400	Enhancers	Left Ventricle	heart
21	chr13:39936600-39941000	Enhancers	NHDF-Ad	bronchial
22	chr13:39936800-39937000	Enhancers	Gastric	stomach
23	chr13:39936800-39937000	Enhancers	NHEK	skin
24	chr13:39936800-39937200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:39936800-39937400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:39936800-39937400	Enhancers	Lung	lung
27	chr13:39936800-39937400	Enhancers	Right Ventricle	heart
28	chr13:39936800-39937600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:39936800-39937800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:39936800-39939400	Enhancers	Ovary	ovary
31	chr13:39936800-39939600	Enhancers	Brain Cingulate Gyrus	brain
32	chr13:39936800-39939600	Enhancers	Brain Substantia Nigra	brain
33	chr13:39936800-39939800	Enhancers	Fetal Lung	lung
34	chr13:39937000-39937200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:39937000-39937200	Enhancers	NHLF	lung
36	chr13:39937000-39937400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:39937000-39937400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:39937000-39937400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:39937000-39937600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:39937000-39938000	Enhancers	Brain Hippocampus Middle	brain
41	chr13:39937000-39938200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr13:39937000-39938600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:39937000-39938800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr13:39937000-39938800	Weak transcription	NHEK	skin
45	chr13:39937000-39939400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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