Variant report

Variant	nsv900381
Chromosome Location	chr13:66016604-66091388
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:65802985..65805270-chr13:66070535..66073117,2	K562	blood:
2	chr13:66014665..66017459-chr13:66017619..66020223,2	MCF-7	breast:
3	chr13:66046639..66047382-chr3:13541452..13542407,2	MCF-7	breast:
4	chr13:66014665..66017459-chr13:66017619..66020223,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH9-7	chr13:66017513-66017582	NONHSAT034194
2	lnc-PCDH9-7	chr13:66035510-66035584	NONHSAT034194

No data

Extended variants
information (count: 1359 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1359 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7337746	chr13:66016604-66016605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188114408	chr13:66016647-66016648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550088669	chr13:66016650-66016651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537389219	chr13:66016671-66016672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192582913	chr13:66016737-66016738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567590837	chr13:66016760-66016761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372898380	chr13:66016804-66016805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566015287	chr13:66016807-66016808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535446934	chr13:66016818-66016819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555051766	chr13:66016827-66016828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145317164	chr13:66016833-66016834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113977209	chr13:66016835-66016836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148749766	chr13:66016884-66016885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558023082	chr13:66016920-66016921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112157532	chr13:66016947-66016948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151257897	chr13:66016980-66016981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572450181	chr13:66017023-66017024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189173923	chr13:66017051-66017052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544357734	chr13:66017057-66017058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374236566	chr13:66017058-66017059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573821869	chr13:66017120-66017121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79802134	chr13:66017243-66017244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559466354	chr13:66017250-66017251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192458737	chr13:66017263-66017264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139852485	chr13:66017271-66017272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144568561	chr13:66017286-66017287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564991028	chr13:66017294-66017295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531030942	chr13:66017310-66017311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376434808	chr13:66017311-66017312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567983015	chr13:66017360-66017361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547494586	chr13:66017465-66017466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368893070	chr13:66017489-66017490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530304467	chr13:66017505-66017506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549006327	chr13:66017510-66017511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565527875	chr13:66017517-66017518	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs534567463	chr13:66017561-66017562	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs565801300	chr13:66017571-66017572	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs147848345	chr13:66017580-66017581	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs571339616	chr13:66017596-66017597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548104405	chr13:66017606-66017607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184870756	chr13:66017611-66017612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546078233	chr13:66017612-66017613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190155490	chr13:66017663-66017664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557179632	chr13:66017669-66017670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573907622	chr13:66017684-66017685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542554721	chr13:66017692-66017693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553374087	chr13:66017747-66017748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141387373	chr13:66017774-66017775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544973585	chr13:66017788-66017789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181869074	chr13:66017812-66017813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66010200-66031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:66016000-66018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:66018800-66019000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:66028200-66028800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:66031600-66031800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:66031800-66035800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:66033400-66034000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:66033400-66036000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:66033600-66034000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:66033600-66036200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:66033800-66034800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:66033800-66035800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:66034000-66034200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr13:66034000-66034200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:66034000-66034400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr13:66034200-66034400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:66034400-66034600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr13:66034400-66034800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr13:66034400-66035600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:66034400-66036000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr13:66034600-66036200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:66034800-66036000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr13:66035400-66036200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:66035600-66036000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr13:66035600-66036000	Enhancers	Adipose Nuclei	Adipose
26	chr13:66035600-66036200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:66035600-66036200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:66035600-66036400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr13:66035600-66036400	Enhancers	Hela-S3	cervix
30	chr13:66035800-66036200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr13:66035800-66036400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:66041600-66042400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:66041600-66044400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:66041800-66043800	Enhancers	Primary hematopoietic stem cells	blood
35	chr13:66042000-66044400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr13:66042400-66042800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:66042400-66043000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:66042400-66043200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:66042400-66043200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr13:66042400-66043600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:66042800-66043400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr13:66042800-66043800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:66043400-66046000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr13:66043600-66045000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:66043800-66046400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:66043800-66047600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr13:66044400-66045800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr13:66044400-66046400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr13:66045200-66045400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:66045200-66045600	Enhancers	Muscle Satellite Cultured Cells	--

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