Variant report

Variant	esv3506174
Chromosome Location	chr13:39932452-39937350
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	chr13:39937229..39938787-chr13:77947276..77949229,2	MCF-7	breast:

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

Extended variants
information (count: 239 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191390399	chr13:39932487-39932488	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs36030120	chr13:39932497-39932498	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs540326266	chr13:39932512-39932513	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs572426467	chr13:39932516-39932517	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs553545533	chr13:39932534-39932535	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs577384994	chr13:39932537-39932538	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs368484902	chr13:39932554-39932555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146324092	chr13:39932577-39932578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372287424	chr13:39932612-39932613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202046929	chr13:39932660-39932661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560158825	chr13:39932669-39932670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139314888	chr13:39932688-39932689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183920406	chr13:39932705-39932706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562113553	chr13:39932726-39932727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77655088	chr13:39932734-39932735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111423261	chr13:39932736-39932737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397768827	chr13:39932737-39932738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534422582	chr13:39932738-39932739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371152929	chr13:39932740-39932741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2840247	chr13:39932741-39932742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187162055	chr13:39932751-39932752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570827161	chr13:39932755-39932756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540905637	chr13:39932797-39932798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1175904	chr13:39932804-39932805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs149972120	chr13:39932905-39932906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568700422	chr13:39932945-39932946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145194721	chr13:39932948-39932949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554394748	chr13:39932962-39932963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562426238	chr13:39932976-39932977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531473574	chr13:39933004-39933005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117808281	chr13:39933017-39933018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533519392	chr13:39933048-39933049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2181760	chr13:39933093-39933094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576893859	chr13:39933126-39933127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545901090	chr13:39933129-39933130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556836881	chr13:39933146-39933147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576709062	chr13:39933154-39933155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542546057	chr13:39933155-39933156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142214518	chr13:39933167-39933168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563150227	chr13:39933168-39933169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532075502	chr13:39933172-39933173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572424102	chr13:39933192-39933193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571421193	chr13:39933258-39933259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141313443	chr13:39933260-39933261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146990237	chr13:39933273-39933274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117310098	chr13:39933293-39933294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76190049	chr13:39933320-39933321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56983422	chr13:39933373-39933374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531362449	chr13:39933375-39933376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140782514	chr13:39933459-39933460	ZNF genes & repeats 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:44 , 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	chr13:39928400-39936400	Weak transcription	Left Ventricle	heart
4	chr13:39928400-39939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:39928400-39939000	Weak transcription	Right Atrium	heart
6	chr13:39928800-39938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:39929200-39938800	Weak transcription	Fetal Heart	heart
8	chr13:39933000-39933400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:39933400-39933600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:39933400-39933800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:39933600-39936400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:39933800-39937000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:39936000-39937800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:39936400-39937200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:39936400-39937400	Enhancers	Left Ventricle	heart
16	chr13:39936600-39941000	Enhancers	NHDF-Ad	bronchial
17	chr13:39936800-39937000	Enhancers	Gastric	stomach
18	chr13:39936800-39937000	Enhancers	NHEK	skin
19	chr13:39936800-39937200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:39936800-39937400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:39936800-39937400	Enhancers	Lung	lung
22	chr13:39936800-39937400	Enhancers	Right Ventricle	heart
23	chr13:39936800-39937600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:39936800-39937800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:39936800-39939400	Enhancers	Ovary	ovary
26	chr13:39936800-39939600	Enhancers	Brain Cingulate Gyrus	brain
27	chr13:39936800-39939600	Enhancers	Brain Substantia Nigra	brain
28	chr13:39936800-39939800	Enhancers	Fetal Lung	lung
29	chr13:39937000-39937200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:39937000-39937200	Enhancers	NHLF	lung
31	chr13:39937000-39937400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:39937000-39937400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr13:39937000-39937400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:39937000-39937600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:39937000-39938000	Enhancers	Brain Hippocampus Middle	brain
36	chr13:39937000-39938200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr13:39937000-39938600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:39937000-39938800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr13:39937000-39938800	Weak transcription	NHEK	skin
40	chr13:39937000-39939400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:39937200-39937600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:39937200-39937800	Enhancers	Fetal Stomach	stomach
43	chr13:39937200-39939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:39937200-39945400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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