Variant report

Variant	esv34795
Chromosome Location	chr13:54691999-54695928
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	chr13:54693602..54695448-chr13:54696284..54698888,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH8-5	chr13:54695075-54695179	ENSG00000234787.3
2	lnc-PCDH8-5	chr13:54695071-54695179	ENSG00000234787

Variant related genes	Relation type
POU5F1	lncRNA

Extended variants
information (count: 168 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2408992	chr13:54692000-54692001	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1335980	chr13:54692006-54692007	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111978538	chr13:54692018-54692019	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112814291	chr13:54692019-54692020	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79447735	chr13:54692020-54692021	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397770475	chr13:54692021-54692022	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2260462	chr13:54692032-54692033	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556099173	chr13:54692079-54692080	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531938880	chr13:54692122-54692123	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551873521	chr13:54692173-54692174	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560039467	chr13:54692192-54692193	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576132994	chr13:54692250-54692251	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528757901	chr13:54692277-54692278	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186395950	chr13:54692330-54692331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535248027	chr13:54692333-54692334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568634186	chr13:54692337-54692338	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17089288	chr13:54692342-54692343	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551048220	chr13:54692376-54692377	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2408993	chr13:54692377-54692378	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189342500	chr13:54692410-54692411	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576557769	chr13:54692463-54692464	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558927015	chr13:54692516-54692517	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553090791	chr13:54692517-54692518	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565994998	chr13:54692574-54692575	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139029760	chr13:54692594-54692595	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554767010	chr13:54692602-54692603	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542260322	chr13:54692659-54692660	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79641890	chr13:54692713-54692714	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556677999	chr13:54692841-54692842	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1984141	chr13:54692859-54692860	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541389079	chr13:54692860-54692861	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561647514	chr13:54692888-54692889	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1335979	chr13:54692892-54692893	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543449094	chr13:54692935-54692936	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528797528	chr13:54692963-54692964	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375413009	chr13:54692964-54692965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562268748	chr13:54692974-54692975	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1984140	chr13:54693040-54693041	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373032079	chr13:54693053-54693054	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142232573	chr13:54693091-54693092	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117947362	chr13:54693093-54693094	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533248564	chr13:54693124-54693125	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547009510	chr13:54693152-54693153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566720477	chr13:54693270-54693271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180958128	chr13:54693296-54693297	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185913499	chr13:54693299-54693300	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568003031	chr13:54693305-54693306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2784558	chr13:54693324-54693325	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556713131	chr13:54693329-54693330	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562033761	chr13:54693373-54693374	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
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
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54678000-54692000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr13:54683200-54698800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:54688600-54692200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:54688600-54699000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:54689000-54706000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:54689400-54700000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:54691000-54692000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:54691800-54706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:54692000-54692200	Genic enhancers	H9 Cell Line	embryonic stem cell
10	chr13:54692000-54695400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:54692200-54693800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
12	chr13:54692200-54695800	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr13:54692600-54705000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:54693800-54700000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr13:54695400-54697200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:54695800-54697600	Weak transcription	H9 Cell Line	embryonic stem cell

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