Variant report

Variant	nsv899999
Chromosome Location	chr13:38582178-38636966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:345)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr13:38620129-38620215	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr13:38619863-38620209	K562	blood:	n/a	n/a
3	CEBPB	chr13:38619868-38620171	K562	blood:	n/a	n/a
4	CEBPB	chr13:38586829-38587169	IMR90	lung:	n/a	chr13:38586996-38587007
5	CEBPB	chr13:38586841-38587178	K562	blood:	n/a	chr13:38586996-38587007
6	CEBPB	chr13:38586834-38587120	A549	lung:	n/a	chr13:38586996-38587007
7	CEBPB	chr13:38619951-38620220	HepG2	liver:	n/a	n/a
8	CEBPB	chr13:38586833-38587187	HepG2	liver:	n/a	chr13:38586996-38587007
9	CEBPB	chr13:38619870-38620220	K562	blood:	n/a	n/a
10	CEBPB	chr13:38583914-38583973	K562	blood:	n/a	n/a
11	CEBPB	chr13:38619913-38620217	IMR90	lung:	n/a	n/a
12	CEBPB	chr13:38619890-38620220	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr13:38583779-38584020	HepG2	liver:	n/a	chr13:38583856-38583867 chr13:38583854-38583865
14	CEBPB	chr13:38619914-38620233	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr13:38582895-38582998	K562	blood:	n/a	n/a
16	CEBPB	chr13:38586869-38587151	H1-hESC	embryonic stem cell:	n/a	chr13:38586996-38587007
17	CEBPB	chr13:38619914-38620258	MCF-7	breast:	n/a	n/a
18	CEBPB	chr13:38628142-38628373	HepG2	liver:	n/a	n/a
19	CHD2	chr13:38619869-38620117	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr13:38619966-38620286	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr13:38619580-38619637	HepG2	liver:	n/a	n/a
22	CTCF	chr13:38620060-38620210	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr13:38620000-38620150	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr13:38620040-38620190	GM12871	blood:	n/a	n/a
25	CTCF	chr13:38619991-38620195	Medullo	brain:	n/a	n/a
26	CTCF	chr13:38619094-38619165	MCF-7	breast:	n/a	n/a
27	CTCF	chr13:38588200-38588350	AG09319	gingival:	n/a	n/a
28	CTCF	chr13:38620000-38620150	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr13:38620020-38620170	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr13:38620000-38620150	GM12870	blood:	n/a	n/a
31	CTCF	chr13:38620060-38620210	HAc	cerebellar:	n/a	n/a
32	CTCF	chr13:38620000-38620150	AG10803	skin:	n/a	n/a
33	CTCF	chr13:38620020-38620170	GM12871	blood:	n/a	n/a
34	CTCF	chr13:38620080-38620230	HMEC	breast:	n/a	n/a
35	CTCF	chr13:38619726-38619727	MCF-7	breast:	n/a	n/a
36	CTCF	chr13:38620000-38620150	K562	blood:	n/a	n/a
37	CTCF	chr13:38619995-38620169	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr13:38588140-38588290	NHEK	skin:	n/a	n/a
39	CTCF	chr13:38620040-38620190	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr13:38619905-38620315	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr13:38620040-38620190	Caco-2	colon:	n/a	n/a
42	CTCF	chr13:38620020-38620170	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr13:38619940-38620090	HCM	heart:	n/a	n/a
44	CTCF	chr13:38620000-38620150	GM06990	blood:	n/a	n/a
45	CTCF	chr13:38619908-38620201	MCF-7	breast:	n/a	n/a
46	CTCF	chr13:38620000-38620150	RPTEC	kidney:	n/a	n/a
47	CTCF	chr13:38619920-38620219	HepG2	liver:	n/a	n/a
48	CTCF	chr13:38620060-38620183	GM13976	blood:	n/a	n/a
49	CTCF	chr13:38620020-38620170	NHLF	lung:	n/a	n/a
50	CTCF	chr13:38620080-38620230	GM12875	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:38619821..38620466-chr13:39104363..39105281,2	MCF-7	breast:
2	chr13:38619645..38620169-chr13:39104518..39105098,2	MCF-7	breast:
3	chr13:38214293..38215171-chr13:38619746..38620556,2	MCF-7	breast:
4	chr13:38581973..38583643-chr13:38584615..38587298,2	K562	blood:
5	chr13:38341398..38342310-chr13:38619796..38620598,3	MCF-7	breast:
6	chr13:38593255..38596219-chr13:38596558..38598612,2	K562	blood:
7	chr13:38619772..38620317-chr13:39337583..39338487,2	MCF-7	breast:
8	chr13:38581022..38583643-chr13:38584185..38587298,3	K562	blood:
9	chr13:38214466..38215276-chr13:38619175..38620143,2	MCF-7	breast:
10	chr13:38581022..38583643-chr13:38584185..38587298,3	K562	blood:
11	chr13:38343183..38343822-chr13:38619567..38620143,2	MCF-7	breast:
12	chr13:38534293..38535195-chr13:38619787..38620669,2	MCF-7	breast:
13	chr13:38213105..38213606-chr13:38619616..38620287,2	MCF-7	breast:
14	chr13:38619641..38620162-chr5:178301644..178302146,3	MCF-7	breast:
15	chr13:38575712..38577603-chr13:38582608..38585456,2	K562	blood:
16	chr13:38619618..38620640-chr5:178301624..178302148,7	MCF-7	breast:
17	chr13:38444174..38445062-chr13:38619564..38620172,4	MCF-7	breast:
18	chr13:38343140..38343850-chr13:38619631..38620180,3	K562	blood:
19	chr13:38593255..38596219-chr13:38596558..38598612,2	K562	blood:
20	chr13:38444501..38445012-chr13:38619704..38620553,2	K562	blood:
21	chr13:38581973..38583643-chr13:38584615..38587298,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPC4-1	chr13:38628057-38628306	ENSG00000223685
2	lnc-UFM1-12	chr13:38603787-38603828	NONHSAT140119
3	lnc-TRPC4-1	chr13:38628212-38628306	NONHSAT033261
4	lnc-TRPC4-1	chr13:38624954-38625018	NONHSAT033261
5	lnc-TRPC4-1	chr13:38627835-38628306	ENSG00000223685
6	lnc-TRPC4-1	chr13:38627030-38627208	NONHSAT033261
7	lnc-TRPC4-1	chr13:38636286-38636371	NONHSAT033261
8	lnc-TRPC4-1	chr13:38635533-38635590	NONHSAT033261
9	lnc-UFM1-12	chr13:38618088-38620549	NONHSAT033258
10	lnc-TRPC4-1	chr13:38635533-38635590	ENSG00000223685
11	lnc-TRPC4-1	chr13:38635533-38635585	ENSG00000223685
12	lnc-TRPC4-1	chr13:38633656-38633845	ENSG00000223685
13	lnc-UFM1-12	chr13:38603785-38603828	NONHSAT033258
14	lnc-UFM1-12	chr13:38618088-38618419	NONHSAT140119

No data

Variant related genes	Relation type
LINC00571	TF binding region
ENSG00000133107	chromatin interactions

Extended variants
information (count: 1498 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1498 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2250286	chr13:38582178-38582179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530170293	chr13:38582180-38582181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73449871	chr13:38582200-38582201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566895305	chr13:38582218-38582219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567013254	chr13:38582247-38582248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539022155	chr13:38582268-38582269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558711125	chr13:38582442-38582443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569515292	chr13:38582474-38582475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538162218	chr13:38582479-38582480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554711572	chr13:38582480-38582481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527786353	chr13:38582493-38582494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145502657	chr13:38582504-38582505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542273387	chr13:38582590-38582591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190748633	chr13:38582660-38582661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371386099	chr13:38582677-38582678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113134895	chr13:38582692-38582693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553022760	chr13:38582710-38582711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138013909	chr13:38582713-38582714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79801006	chr13:38582721-38582722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556892266	chr13:38582759-38582760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12866095	chr13:38582767-38582768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575467416	chr13:38582845-38582846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12866284	chr13:38582861-38582862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567359897	chr13:38582863-38582864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552244366	chr13:38582881-38582882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561026137	chr13:38582886-38582887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368131410	chr13:38582928-38582929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183570435	chr13:38582947-38582948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1981172	chr13:38582948-38582949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573374456	chr13:38582969-38582970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113982010	chr13:38582994-38582995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180933198	chr13:38586245-38586246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558587727	chr13:38586261-38586262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561606110	chr13:38586280-38586281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1890121	chr13:38586285-38586286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547043378	chr13:38586300-38586301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535674872	chr13:38586310-38586311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570448397	chr13:38586315-38586316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9532143	chr13:38586381-38586382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549655293	chr13:38586429-38586430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560822633	chr13:38586430-38586431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535251097	chr13:38586434-38586435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370091215	chr13:38586436-38586437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373807777	chr13:38586443-38586444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149208242	chr13:38586452-38586453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535143241	chr13:38586488-38586489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143593391	chr13:38586529-38586530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557823739	chr13:38586531-38586532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28675077	chr13:38586577-38586578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111965037	chr13:38586583-38586584	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38578000-38582600	Weak transcription	Stomach Mucosa	stomach
2	chr13:38582600-38583000	Enhancers	Stomach Mucosa	stomach
3	chr13:38586200-38587400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:38586400-38586600	Enhancers	Left Ventricle	heart
5	chr13:38587800-38588200	Enhancers	HUVEC	blood vessel
6	chr13:38594200-38597600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:38594800-38596600	ZNF genes & repeats	Liver	Liver
8	chr13:38597800-38598600	Enhancers	Brain Germinal Matrix	brain
9	chr13:38604000-38604200	ZNF genes & repeats	Pancreas	Pancrea
10	chr13:38604200-38619200	Weak transcription	Pancreas	Pancrea
11	chr13:38606400-38621400	Weak transcription	Right Ventricle	heart
12	chr13:38615600-38619400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:38616000-38621200	Weak transcription	Liver	Liver
14	chr13:38617000-38617400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:38617400-38619000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr13:38618400-38618600	Enhancers	Fetal Muscle Trunk	muscle
17	chr13:38618400-38620200	ZNF genes & repeats	Aorta	Aorta
18	chr13:38618600-38619400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
19	chr13:38618600-38619800	ZNF genes & repeats	Lung	lung
20	chr13:38619200-38620200	ZNF genes & repeats	Pancreas	Pancrea
21	chr13:38619400-38619600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:38619400-38619800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:38619600-38620000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr13:38619600-38620000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:38619800-38620000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:38619800-38620400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr13:38620200-38621200	Weak transcription	Aorta	Aorta
28	chr13:38620200-38622400	Weak transcription	Ovary	ovary
29	chr13:38620200-38633600	Weak transcription	Pancreas	Pancrea
30	chr13:38621000-38621400	Active TSS	Colon Smooth Muscle	Colon
31	chr13:38621200-38621600	ZNF genes & repeats	Aorta	Aorta
32	chr13:38621200-38621600	ZNF genes & repeats	Liver	Liver
33	chr13:38621600-38624800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr13:38621600-38626200	Weak transcription	Liver	Liver
35	chr13:38621600-38633600	Weak transcription	Aorta	Aorta
36	chr13:38621800-38622000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:38623800-38624000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr13:38633600-38633800	ZNF genes & repeats	Aorta	Aorta
39	chr13:38633600-38633800	ZNF genes & repeats	Pancreas	Pancrea
40	chr13:38633800-38634000	Weak transcription	Pancreas	Pancrea
41	chr13:38633800-38635000	Weak transcription	Aorta	Aorta
42	chr13:38635000-38635200	ZNF genes & repeats	Aorta	Aorta

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