Variant report

Variant	nsv561879
Chromosome Location	chr13:62655236-62666114
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	chr13:62660162..62662545-chr13:62664101..62665603,2	K562	blood:
2	chr13:62660162..62662545-chr13:62664101..62665603,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-14	chr13:62655235-62655462	NONHSAT034139

Extended variants
information (count: 73 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9670976	chr13:62655236-62655237	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550694995	chr13:62655278-62655279	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs550268867	chr13:62655346-62655347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs568527395	chr13:62655356-62655357	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536061780	chr13:62655374-62655375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548010107	chr13:62655404-62655405	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs189446946	chr13:62655434-62655435	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs533425843	chr13:62655437-62655438	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs77010948	chr13:62655453-62655454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs181467313	chr13:62655460-62655461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs145038664	chr13:62659407-62659408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117583618	chr13:62659423-62659424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77373650	chr13:62659428-62659429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149057030	chr13:62659548-62659549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187541029	chr13:62659560-62659561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116716881	chr13:62659568-62659569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372912100	chr13:62659598-62659599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143097757	chr13:62659616-62659617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531620367	chr13:62659652-62659653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193272102	chr13:62659676-62659677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550728149	chr13:62659687-62659688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568933179	chr13:62659691-62659692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148187916	chr13:62659695-62659696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554656003	chr13:62659701-62659702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566583218	chr13:62659741-62659742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184176469	chr13:62659760-62659761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556151499	chr13:62659770-62659771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116300604	chr13:62659778-62659779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577499402	chr13:62659780-62659781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113550135	chr13:62659838-62659839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188013689	chr13:62659859-62659860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556865139	chr13:62659882-62659883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574497548	chr13:62659889-62659890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35447105	chr13:62659908-62659909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113741406	chr13:62659917-62659918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560290745	chr13:62659924-62659925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527376876	chr13:62659996-62659997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545714812	chr13:62660021-62660022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112047289	chr13:62660111-62660112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564285710	chr13:62660127-62660128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541953718	chr13:62660132-62660133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531377238	chr13:62660142-62660143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561502029	chr13:62660179-62660180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541530121	chr13:62660198-62660199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112902096	chr13:62660249-62660250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9528461	chr13:62660291-62660292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs308585	chr13:62660299-62660300	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs563927489	chr13:62660315-62660316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368287786	chr13:62660319-62660320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566895164	chr13:62660331-62660332	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
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62659400-62660200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:62659400-62660400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr13:62659400-62660400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr13:62659400-62660400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:62659400-62660400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:62659400-62660400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:62659400-62660400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:62659600-62660200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:62659600-62660400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:62659600-62660400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:62659600-62660400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:62659800-62660200	Enhancers	Brain Germinal Matrix	brain
13	chr13:62660000-62660400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:62660000-62660600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:62664400-62664800	Enhancers	Fetal Muscle Leg	muscle

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