Variant report

Variant	nsv977243
Chromosome Location	chr13:52915464-52918841
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52917176..52917696-chr13:53382727..53383690,2	K562	blood:
2	chr13:52917157..52919301-chr13:53024221..53025626,7	MCF-7	breast:
3	chr13:52917335..52918274-chr13:53024499..53025207,3	MCF-7	breast:
4	chr13:52917718..52921216-chr13:53022914..53025768,5	MCF-7	breast:
5	chr13:52917213..52918202-chr13:53024381..53024988,3	K562	blood:
6	chr13:52917796..52919979-chr13:52922029..52924038,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKAP2-2	chr13:52915428-52916031	ENSG00000271564.1

No data

Variant related genes	Relation type
ENSG00000136100	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551218021	chr13:52915467-52915468	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189957361	chr13:52915501-52915502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532114788	chr13:52915536-52915537	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs552287309	chr13:52915538-52915539	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs565633372	chr13:52915597-52915598	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs138577133	chr13:52915650-52915651	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs149382977	chr13:52915694-52915695	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs9526890	chr13:52915710-52915711	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536922492	chr13:52915722-52915723	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs193289932	chr13:52915726-52915727	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs144714100	chr13:52915784-52915785	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs35600190	chr13:52915808-52915809	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs539247712	chr13:52915824-52915825	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs553480265	chr13:52915825-52915826	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs185481795	chr13:52915836-52915837	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs79364983	chr13:52915842-52915843	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs542222553	chr13:52915844-52915845	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs78814967	chr13:52915856-52915857	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs80084208	chr13:52915861-52915862	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs79877836	chr13:52915862-52915863	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs75646768	chr13:52915863-52915864	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs80105555	chr13:52915865-52915866	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs77796775	chr13:52915866-52915867	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs79568565	chr13:52915869-52915870	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs9526891	chr13:52915886-52915887	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs9563100	chr13:52915890-52915891	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs544879215	chr13:52915899-52915900	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs564758451	chr13:52915908-52915909	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs56286438	chr13:52915925-52915926	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546855248	chr13:52915931-52915932	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs534859546	chr13:52915937-52915938	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs9526892	chr13:52915954-52915955	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs141815243	chr13:52915959-52915960	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs547806817	chr13:52915993-52915994	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs34152514	chr13:52916037-52916038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567674446	chr13:52916055-52916056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530723542	chr13:52916060-52916061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34582255	chr13:52916061-52916062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550502012	chr13:52916065-52916066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147244254	chr13:52916075-52916076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180740807	chr13:52916082-52916083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58375002	chr13:52916102-52916103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532829777	chr13:52916109-52916110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185743760	chr13:52916119-52916120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28819485	chr13:52916169-52916170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs9687077	chr13:52916179-52916180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188855160	chr13:52916189-52916190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12966227	chr13:52916193-52916194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555807856	chr13:52916207-52916208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575746700	chr13:52916245-52916246	Weak transcription	n/a	n/a	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
Gastrointestinal stromal cancer	20877625	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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52913000-52918000	Weak transcription	HSMM	muscle
2	chr13:52913000-52918200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:52913400-52918200	Weak transcription	HepG2	liver
4	chr13:52913400-52918800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:52917400-52917600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:52917600-52917800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr13:52917600-52917800	Enhancers	A549	lung
8	chr13:52917600-52917800	Enhancers	HUVEC	blood vessel
9	chr13:52917600-52918000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:52917600-52918000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:52917600-52918000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr13:52917600-52918200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:52917600-52918200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:52917600-52918200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr13:52917600-52918200	Enhancers	NHDF-Ad	bronchial
16	chr13:52917600-52920400	Enhancers	Osteobl	bone
17	chr13:52917800-52918000	Enhancers	Fetal Muscle Trunk	muscle
18	chr13:52917800-52918200	Active TSS	HSMMtube	muscle
19	chr13:52917800-52918800	Active TSS	Adipose Nuclei	Adipose
20	chr13:52917800-52920400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:52917800-52922000	Weak transcription	A549	lung
22	chr13:52918000-52918200	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr13:52918000-52918200	Enhancers	NH-A	brain
24	chr13:52918000-52918600	Active TSS	HSMM	muscle
25	chr13:52918000-52919000	Weak transcription	HUVEC	blood vessel
26	chr13:52918000-52919200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:52918200-52918400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:52918200-52918400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:52918200-52918400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr13:52918200-52918400	Flanking Active TSS	NHLF	lung
31	chr13:52918200-52918600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:52918200-52918600	Flanking Active TSS	NHDF-Ad	bronchial
33	chr13:52918200-52918800	Enhancers	Fetal Muscle Trunk	muscle
34	chr13:52918200-52918800	Flanking Active TSS	HSMMtube	muscle
35	chr13:52918200-52919200	Weak transcription	NH-A	brain
36	chr13:52918200-52920400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:52918200-52920600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:52918400-52918600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:52918400-52918600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:52918400-52918600	Active TSS	NHLF	lung
41	chr13:52918400-52920600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr13:52918600-52918800	Flanking Active TSS	HSMM	muscle
43	chr13:52918600-52919000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:52918600-52919400	Weak transcription	NHDF-Ad	bronchial
45	chr13:52918600-52919600	Enhancers	NHLF	lung
46	chr13:52918600-52919800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:52918600-52920000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:52918800-52919200	Enhancers	NHEK	skin
49	chr13:52918800-52920400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:52918800-52920800	Enhancers	HSMMtube	muscle

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