Variant report

Variant	nsv561911
Chromosome Location	chr13:64110731-64194660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-7	chr13:64159590-64159812	XLOC_010641
2	lnc-PCDH20-7	chr13:64159888-64159977	XLOC_010641

Variant related genes	Relation type
FUNDC2	miRNA target sites
ZNF71	miRNA target sites

Extended variants
information (count: 965 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:965 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61953809	chr13:64112615-64112616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7318709	chr13:64112623-64112624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577921085	chr13:64112643-64112644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536217631	chr13:64112645-64112646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561193033	chr13:64112648-64112649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74086975	chr13:64112680-64112681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377642911	chr13:64112685-64112686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116276903	chr13:64112706-64112707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575491514	chr13:64112740-64112741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557388641	chr13:64112742-64112743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542893669	chr13:64112744-64112745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560753294	chr13:64112762-64112763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534023429	chr13:64112765-64112766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572772193	chr13:64112797-64112798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185281074	chr13:64112802-64112803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115416057	chr13:64112850-64112851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150526234	chr13:64112880-64112881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190434929	chr13:64112900-64112901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554174393	chr13:64112927-64112928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139465683	chr13:64112934-64112935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141581618	chr13:64112949-64112950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565060076	chr13:64112950-64112951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567566334	chr13:64112968-64112969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146180524	chr13:64112978-64112979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567570223	chr13:64112984-64112985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375660334	chr13:64113040-64113041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534400534	chr13:64113095-64113096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571816749	chr13:64113098-64113099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536623036	chr13:64113132-64113133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28395424	chr13:64113138-64113139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374607870	chr13:64113195-64113196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556912774	chr13:64113266-64113267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569013322	chr13:64113354-64113355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536179865	chr13:64113367-64113368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554816381	chr13:64113393-64113394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183076753	chr13:64113396-64113397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7319775	chr13:64113405-64113406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188414381	chr13:64113412-64113413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558117839	chr13:64113448-64113449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117268489	chr13:64113530-64113531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377410630	chr13:64113538-64113539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9592282	chr13:64113560-64113561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79137331	chr13:64113561-64113562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111375505	chr13:64113600-64113601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193041243	chr13:64113615-64113616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139778309	chr13:64113619-64113620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183965756	chr13:64113649-64113650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577362948	chr13:64113706-64113707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528791979	chr13:64113708-64113709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547057294	chr13:64113714-64113715	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64112600-64114200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr13:64114200-64117200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:64115400-64115600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
4	chr13:64115400-64115800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:64115400-64115800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr13:64115400-64115800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:64115400-64115800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:64115400-64116000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr13:64115400-64116000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr13:64115400-64116000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr13:64115400-64116000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr13:64115400-64116200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr13:64115600-64115800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr13:64115600-64116000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr13:64115600-64116000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:64115800-64116800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:64115800-64116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:64116800-64117600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:64116800-64117600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:64117000-64117800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:64117200-64117400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr13:64117600-64122000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:64118800-64119400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:64119000-64120200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr13:64119200-64120400	Enhancers	Placenta	Placenta
26	chr13:64119400-64120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:64120000-64120200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:64122000-64122400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:64130400-64131600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:64130600-64131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:64130800-64131200	Enhancers	Placenta	Placenta
32	chr13:64131000-64131400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr13:64131000-64131400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr13:64140000-64140400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:64140000-64141600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:64140200-64141200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:64140400-64145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:64154200-64154400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:64159600-64160000	Active TSS	Hela-S3	cervix
40	chr13:64159600-64160200	Active TSS	A549	lung
41	chr13:64161200-64161600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:64168600-64169000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:64168600-64169000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:64168800-64169800	Enhancers	Fetal Heart	heart
45	chr13:64170000-64170400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:64170000-64170600	Enhancers	HMEC	breast
47	chr13:64170200-64170600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr13:64172800-64174000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr13:64173000-64173400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr13:64173000-64173400	Enhancers	HUES64 Cell Line	embryonic stem cell

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