Variant report

Variant	nsv900002
Chromosome Location	chr13:38628041-38710260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:157 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:38628142-38628373	HepG2	liver:	n/a	n/a
2	CEBPB	chr13:38638998-38639198	K562	blood:	n/a	n/a
3	CEBPB	chr13:38639012-38639232	IMR90	lung:	n/a	n/a
4	CTCF	chr13:38683266-38683351	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr13:38674907-38675000	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr13:38674900-38675050	HMEC	breast:	n/a	n/a
7	CTCF	chr13:38639920-38640070	HepG2	liver:	n/a	n/a
8	CTCF	chr13:38633852-38633902	GM20000	blood:	n/a	n/a
9	CTCF	chr13:38674860-38675010	Caco-2	colon:	n/a	n/a
10	CTCF	chr13:38651467-38651575	LNCaP	prostate:	n/a	n/a
11	CTCF	chr13:38651440-38651590	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr13:38651380-38651530	NHEK	skin:	n/a	n/a
13	CTCF	chr13:38651440-38651590	HMF	breast:	n/a	n/a
14	CTCF	chr13:38651420-38651570	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr13:38651460-38651610	Caco-2	colon:	n/a	n/a
16	CTCF	chr13:38639953-38640151	MCF-7	breast:	n/a	n/a
17	CTCF	chr13:38674900-38675050	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr13:38651434-38651556	MCF-7	breast:	n/a	n/a
19	CTCF	chr13:38639984-38640142	MCF-7	breast:	n/a	n/a
20	CTCF	chr13:38651440-38651590	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr13:38639967-38640149	MCF-7	breast:	n/a	n/a
22	CTCF	chr13:38651400-38651550	AG09319	gingival:	n/a	n/a
23	CTCF	chr13:38651480-38651630	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr13:38674840-38674990	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr13:38674820-38674970	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr13:38651480-38651630	HCFaa	heart:	n/a	n/a
27	CTCF	chr13:38651440-38651590	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr13:38639960-38640110	MCF-7	breast:	n/a	n/a
29	CTCF	chr13:38651420-38651570	AG09319	gingival:	n/a	n/a
30	CTCF	chr13:38674963-38674997	GM13976	blood:	n/a	n/a
31	CTCF	chr13:38705480-38705630	GM12871	blood:	n/a	n/a
32	CTCF	chr13:38651420-38651570	HMEC	breast:	n/a	n/a
33	CTCF	chr13:38651420-38651570	HMF	breast:	n/a	n/a
34	CTCF	chr13:38651480-38651630	BJ	skin:	n/a	n/a
35	CTCF	chr13:38709820-38709970	NHEK	skin:	n/a	n/a
36	CTCF	chr13:38651460-38651610	BE2_C	brain:	n/a	n/a
37	CTCF	chr13:38651460-38651610	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr13:38680252-38680283	GM13976	blood:	n/a	n/a
39	CTCF	chr13:38674900-38675050	HRE	kidney:	n/a	n/a
40	CTCF	chr13:38651400-38651550	SAEC	small airway:	n/a	n/a
41	CTCF	chr13:38684327-38684380	Lung_OC	lung:	n/a	n/a
42	CTCF	chr13:38651450-38651545	LNCaP	prostate:	n/a	n/a
43	CTCF	chr13:38639947-38640125	MCF-7	breast:	n/a	n/a
44	CTCF	chr13:38651440-38651590	HVMF	connective:	n/a	n/a
45	CTCF	chr13:38651458-38651572	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr13:38651480-38651630	AG10803	skin:	n/a	n/a
47	CTCF	chr13:38651465-38651544	K562	blood:	n/a	n/a
48	CTCF	chr13:38639947-38640145	MCF-7	breast:	n/a	n/a
49	CTCF	chr13:38651457-38651560	K562	blood:	n/a	n/a
50	CTCF	chr13:38674900-38675050	NHEK	skin:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:38646926..38648943-chr13:38649101..38651879,3	K562	blood:
2	chr13:38646926..38648943-chr13:38649101..38651879,3	K562	blood:
3	chr13:38697528..38699053-chr13:38760202..38763046,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPC4-1	chr13:38635533-38635590	ENSG00000223685
2	lnc-TRPC4-1	chr13:38648085-38648325	NONHSAT033261
3	lnc-TRPC4-1	chr13:38635533-38635585	ENSG00000223685
4	lnc-TRPC4-1	chr13:38628057-38628306	ENSG00000223685
5	lnc-TRPC4-1	chr13:38636286-38636371	NONHSAT033261
6	lnc-TRPC4-1	chr13:38635533-38635590	NONHSAT033261
7	lnc-TRPC4-1	chr13:38667563-38667685	NONHSAT033261
8	lnc-TRPC4-1	chr13:38627835-38628306	ENSG00000223685
9	lnc-TRPC4-1	chr13:38633656-38633845	ENSG00000223685
10	lnc-TRPC4-1	chr13:38663710-38663797	NONHSAT033261
11	lnc-TRPC4-1	chr13:38628212-38628306	NONHSAT033261

No data

Variant related genes	Relation type
LINC00571	TF binding region

Extended variants
information (count: 1893 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1893 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9532150	chr13:38628041-38628042	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs17057121	chr13:38628067-38628068	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188177044	chr13:38628082-38628083	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs61741235	chr13:38628111-38628112	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs180708310	chr13:38628133-38628134	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs185761710	chr13:38628139-38628140	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs41292239	chr13:38628160-38628161	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs563256070	chr13:38628208-38628209	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs558206480	chr13:38628210-38628211	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs530587851	chr13:38628248-38628249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs562017370	chr13:38628269-38628270	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs377317624	chr13:38628310-38628311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398117219	chr13:38628318-38628319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578047098	chr13:38628328-38628329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115521457	chr13:38628397-38628398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138087990	chr13:38628435-38628436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574025879	chr13:38628460-38628461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149535197	chr13:38628492-38628493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559630427	chr13:38628500-38628501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573052404	chr13:38628505-38628506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1924186	chr13:38628546-38628547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564172789	chr13:38628584-38628585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533289637	chr13:38628604-38628605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546440533	chr13:38628705-38628706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368078744	chr13:38628712-38628713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369166073	chr13:38628718-38628719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549873291	chr13:38628775-38628776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182093579	chr13:38628805-38628806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36021119	chr13:38628813-38628814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386378852	chr13:38628814-38628815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73452130	chr13:38628830-38628831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs61955165	chr13:38628836-38628837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536460541	chr13:38628926-38628927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566004343	chr13:38628932-38628933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186688008	chr13:38628958-38628959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534777781	chr13:38629003-38629004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555103327	chr13:38629141-38629142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551273957	chr13:38629170-38629171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9566294	chr13:38629177-38629178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs17277817	chr13:38629213-38629214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113532634	chr13:38629297-38629298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143899205	chr13:38629299-38629300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76357028	chr13:38629315-38629316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553221570	chr13:38629339-38629340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562717537	chr13:38629385-38629386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112735149	chr13:38629386-38629387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17277873	chr13:38629421-38629422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558858875	chr13:38629446-38629447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571041524	chr13:38629466-38629467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575839157	chr13:38629476-38629477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	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
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38620200-38633600	Weak transcription	Pancreas	Pancrea
2	chr13:38621600-38633600	Weak transcription	Aorta	Aorta
3	chr13:38633600-38633800	ZNF genes & repeats	Aorta	Aorta
4	chr13:38633600-38633800	ZNF genes & repeats	Pancreas	Pancrea
5	chr13:38633800-38634000	Weak transcription	Pancreas	Pancrea
6	chr13:38633800-38635000	Weak transcription	Aorta	Aorta
7	chr13:38635000-38635200	ZNF genes & repeats	Aorta	Aorta
8	chr13:38645800-38646000	ZNF genes & repeats	Gastric	stomach
9	chr13:38648200-38648600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:38649800-38651800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:38650600-38650800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:38653200-38654400	Weak transcription	Gastric	stomach
13	chr13:38654400-38654600	ZNF genes & repeats	Gastric	stomach
14	chr13:38654600-38659800	Weak transcription	Gastric	stomach
15	chr13:38657600-38659800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:38658600-38659000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:38659000-38660800	Weak transcription	Pancreas	Pancrea
18	chr13:38659800-38661600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:38659800-38661800	ZNF genes & repeats	Gastric	stomach
20	chr13:38660000-38661600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:38660000-38661600	ZNF genes & repeats	Ovary	ovary
22	chr13:38660200-38661600	ZNF genes & repeats	Lung	lung
23	chr13:38660200-38663000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr13:38660400-38661400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:38660600-38661600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:38660600-38661600	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr13:38660600-38661800	ZNF genes & repeats	Liver	Liver
28	chr13:38660600-38661800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
29	chr13:38660800-38661600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:38660800-38661600	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr13:38660800-38661800	ZNF genes & repeats	Pancreas	Pancrea
32	chr13:38661200-38661600	ZNF genes & repeats	Right Ventricle	heart
33	chr13:38661200-38661800	ZNF genes & repeats	Left Ventricle	heart
34	chr13:38661600-38662600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:38661600-38665200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:38661800-38664400	Weak transcription	Liver	Liver
37	chr13:38661800-38665000	Weak transcription	Pancreas	Pancrea
38	chr13:38661800-38669000	Weak transcription	Left Ventricle	heart
39	chr13:38663000-38665200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr13:38664200-38678000	Weak transcription	Psoas Muscle	Psoas
41	chr13:38665000-38665400	ZNF genes & repeats	Pancreas	Pancrea
42	chr13:38665200-38665400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:38665200-38665400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr13:38665400-38678600	Weak transcription	Pancreas	Pancrea
45	chr13:38678000-38678200	Enhancers	Psoas Muscle	Psoas
46	chr13:38678000-38678400	Weak transcription	Gastric	stomach
47	chr13:38678000-38678400	Enhancers	Left Ventricle	heart
48	chr13:38678200-38678600	ZNF genes & repeats	Aorta	Aorta
49	chr13:38678200-38678600	Enhancers	Right Ventricle	heart
50	chr13:38678400-38678800	ZNF genes & repeats	Gastric	stomach

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