Variant report

Variant	nsv9071
Chromosome Location	chr13:54697730-54701031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:54693602..54695448-chr13:54696284..54698888,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH8-5	chr13:54699284-54699407	ENSG00000234787.3
2	lnc-PCDH8-5	chr13:54698462-54698890	NONHSAT034028
3	lnc-PCDH8-5	chr13:54698948-54699407	ENSG00000234787.3
4	lnc-PCDH8-5	chr13:54700998-54701564	NR_108063
5	lnc-PCDH8-5	chr13:54698459-54698890	ENSG00000234787.3
6	lnc-PCDH8-5	chr13:54699284-54699407	ENSG00000234787
7	lnc-PCDH8-5	chr13:54698459-54698890	NR_108062
8	lnc-PCDH8-5	chr13:54698459-54698890	ENSG00000234787
9	lnc-PCDH8-5	chr13:54699130-54699407	ENSG00000234787.3
10	lnc-PCDH8-5	chr13:54700997-54701564	ENSG00000234787

No data

Variant related genes	Relation type
POU5F1	lncRNA

Extended variants
information (count: 138 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145898776	chr13:54697739-54697740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543046083	chr13:54697747-54697748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189991579	chr13:54697749-54697750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377487046	chr13:54697916-54697917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532859546	chr13:54697924-54697925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546132089	chr13:54697946-54697947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557552405	chr13:54697960-54697961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181562146	chr13:54697966-54697967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76690614	chr13:54697976-54697977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185705010	chr13:54698007-54698008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568596324	chr13:54698033-54698034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571129417	chr13:54698039-54698040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371656423	chr13:54698072-54698073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1932503	chr13:54698075-54698076	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550968754	chr13:54698076-54698077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191050244	chr13:54698101-54698102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372993023	chr13:54698110-54698111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7335475	chr13:54698124-54698125	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78106652	chr13:54698128-54698129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147328166	chr13:54698202-54698203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3080181	chr13:54698203-54698204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374787156	chr13:54698204-54698205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3080182	chr13:54698206-54698207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551221986	chr13:54698210-54698211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79346444	chr13:54698211-54698212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77945887	chr13:54698315-54698316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565630788	chr13:54698327-54698328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534555142	chr13:54698328-54698329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554323273	chr13:54698356-54698357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572736700	chr13:54698422-54698423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574230496	chr13:54698522-54698523	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs56286638	chr13:54698541-54698542	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs138457492	chr13:54698543-54698544	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs184036460	chr13:54698608-54698609	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs988526	chr13:54698626-54698627	Weak transcription Strong transcription	lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574958691	chr13:54698634-54698635	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs149625557	chr13:54698643-54698644	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs187695174	chr13:54698659-54698660	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs143340665	chr13:54698698-54698699	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs562230028	chr13:54698699-54698700	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs531048652	chr13:54698702-54698703	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs550752459	chr13:54698743-54698744	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs564515926	chr13:54698759-54698760	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs376326994	chr13:54698789-54698790	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs373819097	chr13:54698794-54698795	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs148015344	chr13:54698806-54698807	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs34226788	chr13:54698809-54698810	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs565668248	chr13:54698822-54698823	Weak transcription Strong transcription	lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs988527	chr13:54698841-54698842	Weak transcription Strong transcription	lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548001301	chr13:54698842-54698843	Weak transcription Strong transcription	lncRNA	1 gene(s)	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54683200-54698800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:54688600-54699000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:54689000-54706000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:54689400-54700000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:54691800-54706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:54692600-54705000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:54693800-54700000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:54696200-54700400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:54696400-54699200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:54697200-54700600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:54697600-54702600	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr13:54698800-54700800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:54698800-54701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr13:54699000-54701600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:54699200-54701400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr13:54700000-54700200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr13:54700000-54702800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:54700200-54701200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:54700400-54700800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:54700600-54701000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:54700600-54701200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
22	chr13:54700800-54701000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:54700800-54701200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr13:54700800-54701400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:54701000-54701600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr13:54701000-54704400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:54701000-54705200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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