Variant report

Variant	nsv561895
Chromosome Location	chr13:63098996-63147070
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:2)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:63138713..63141263-chr13:63143724..63146149,2	K562	blood:
2	chr13:63138713..63141263-chr13:63143724..63146149,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-17	chr13:63139816-63139967	NONHSAT034148
2	lnc-AL445989.1-24	chr13:63106380-63106465	l_863_chr13:63099008-63106465_testes
3	lnc-PCDH20-2	chr13:63114022-63114201	XLOC_010636
4	lnc-PCDH20-2	chr13:63113850-63113929	XLOC_010636
5	lnc-AL445989.1-24	chr13:63105476-63105530	l_863_chr13:63099008-63106465_testes
6	lnc-PCDH20-16	chr13:63102771-63102814	l_862_chr13:63094164-63102814_kidney
7	lnc-AL445989.1-24	chr13:63099009-63099080	l_863_chr13:63099008-63106465_testes
8	lnc-PCDH20-17	chr13:63139815-63139973	NONHSAT034147
9	lnc-PCDH20-17	chr13:63139751-63139973	l_864_chr13:63139750-63189137_testes

No data

Extended variants
information (count: 262 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1336141	chr13:63098996-63098997	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78890021	chr13:63099036-63099037	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs374268052	chr13:63099048-63099049	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs545091422	chr13:63099069-63099070	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs563489095	chr13:63099163-63099164	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530790758	chr13:63099229-63099230	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs183236025	chr13:63099302-63099303	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567663401	chr13:63099400-63099401	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528749574	chr13:63099427-63099428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547273921	chr13:63099494-63099495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533896812	chr13:63099516-63099517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571708761	chr13:63099526-63099527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373176129	chr13:63099590-63099591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143896203	chr13:63099610-63099611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553455147	chr13:63099629-63099630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550691455	chr13:63099667-63099668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115102368	chr13:63099690-63099691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117487063	chr13:63099696-63099697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186529233	chr13:63099713-63099714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377148135	chr13:63099725-63099726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533808187	chr13:63099735-63099736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190119560	chr13:63099756-63099757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2649159	chr13:63099813-63099814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555672215	chr13:63099831-63099832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575420953	chr13:63099855-63099856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544032954	chr13:63099870-63099871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373051149	chr13:63099921-63099922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151333174	chr13:63099980-63099981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544527342	chr13:63100004-63100005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575296981	chr13:63100014-63100015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140619180	chr13:63100022-63100023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117240919	chr13:63100038-63100039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9598466	chr13:63100053-63100054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540739263	chr13:63100068-63100069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546967943	chr13:63100086-63100087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117025353	chr13:63100126-63100127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532737556	chr13:63100147-63100148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551162269	chr13:63100213-63100214	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529334273	chr13:63100223-63100224	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs9598467	chr13:63100290-63100291	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536307248	chr13:63100301-63100302	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116832993	chr13:63100322-63100323	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566337070	chr13:63100323-63100324	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568942914	chr13:63100331-63100332	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs182745878	chr13:63100342-63100343	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs577101161	chr13:63100385-63100386	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150028494	chr13:63100392-63100393	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs555909904	chr13:63100410-63100411	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145353793	chr13:63100413-63100414	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs73190277	chr13:63100421-63100422	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63098400-63099400	Flanking Active TSS	GM12878-XiMat	blood
2	chr13:63098600-63099000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:63098600-63099200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr13:63098600-63099400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr13:63098800-63099400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:63099400-63100200	Enhancers	GM12878-XiMat	blood
7	chr13:63100200-63100600	Flanking Active TSS	GM12878-XiMat	blood
8	chr13:63101200-63104800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:63103200-63103600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:63106000-63107000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:63106000-63107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:63106200-63107000	Enhancers	Gastric	stomach
13	chr13:63131600-63132400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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