Variant report

Variant	nsv900000
Chromosome Location	chr13:38608928-38710260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:435)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr13:38619951-38620220	HepG2	liver:	n/a	n/a
4	CEBPB	chr13:38639012-38639232	IMR90	lung:	n/a	n/a
5	CEBPB	chr13:38619868-38620171	K562	blood:	n/a	n/a
6	CEBPB	chr13:38619870-38620220	K562	blood:	n/a	n/a
7	CEBPB	chr13:38638998-38639198	K562	blood:	n/a	n/a
8	CEBPB	chr13:38619913-38620217	IMR90	lung:	n/a	n/a
9	CEBPB	chr13:38628142-38628373	HepG2	liver:	n/a	n/a
10	CEBPB	chr13:38619914-38620258	MCF-7	breast:	n/a	n/a
11	CEBPB	chr13:38619914-38620233	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr13:38619890-38620220	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr13:38619966-38620286	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr13:38619580-38619637	HepG2	liver:	n/a	n/a
15	CHD2	chr13:38619869-38620117	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr13:38620020-38620170	BE2_C	brain:	n/a	n/a
17	CTCF	chr13:38651450-38651545	LNCaP	prostate:	n/a	n/a
18	CTCF	chr13:38620000-38620150	HepG2	liver:	n/a	n/a
19	CTCF	chr13:38674860-38675010	Caco-2	colon:	n/a	n/a
20	CTCF	chr13:38620080-38620230	GM12875	blood:	n/a	n/a
21	CTCF	chr13:38651420-38651570	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr13:38620040-38620190	GM12871	blood:	n/a	n/a
23	CTCF	chr13:38620020-38620170	HepG2	liver:	n/a	n/a
24	CTCF	chr13:38619728-38620386	K562	blood:	n/a	n/a
25	CTCF	chr13:38619911-38620186	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr13:38619964-38620236	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr13:38619921-38620184	Fibrobl	skin:	n/a	n/a
28	CTCF	chr13:38619983-38620165	A549	lung:	n/a	n/a
29	CTCF	chr13:38620020-38620170	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr13:38619998-38620152	GM12892	blood:	n/a	n/a
31	CTCF	chr13:38619977-38620249	LNCaP	prostate:	n/a	n/a
32	CTCF	chr13:38620000-38620150	MCF-7	breast:	n/a	n/a
33	CTCF	chr13:38620060-38620210	HFF	foreskin:	n/a	n/a
34	CTCF	chr13:38619920-38620188	MCF-7	breast:	n/a	n/a
35	CTCF	chr13:38619094-38619165	MCF-7	breast:	n/a	n/a
36	CTCF	chr13:38620001-38620162	GM13977	blood:	n/a	n/a
37	CTCF	chr13:38620040-38620190	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr13:38619059-38619156	K562	blood:	n/a	n/a
39	CTCF	chr13:38651460-38651610	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr13:38619965-38620188	GM19238	blood:	n/a	n/a
41	CTCF	chr13:38620040-38620190	HPF	lung:	n/a	n/a
42	CTCF	chr13:38619942-38620203	NHEK	skin:	n/a	n/a
43	CTCF	chr13:38620020-38620170	GM12873	blood:	n/a	n/a
44	CTCF	chr13:38620040-38620190	GM12866	blood:	n/a	n/a
45	CTCF	chr13:38620060-38620210	HAc	cerebellar:	n/a	n/a
46	CTCF	chr13:38620040-38620190	AG09309	skin:	n/a	n/a
47	CTCF	chr13:38619856-38620286	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr13:38620360-38620510	AG10803	skin:	n/a	n/a
49	CTCF	chr13:38620040-38620190	Caco-2	colon:	n/a	n/a
50	CTCF	chr13:38674900-38675050	NHEK	skin:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:38619618..38620640-chr5:178301624..178302148,7	MCF-7	breast:
2	chr13:38619645..38620169-chr13:39104518..39105098,2	MCF-7	breast:
3	chr13:38213105..38213606-chr13:38619616..38620287,2	MCF-7	breast:
4	chr13:38619641..38620162-chr5:178301644..178302146,3	MCF-7	breast:
5	chr13:38534293..38535195-chr13:38619787..38620669,2	MCF-7	breast:
6	chr13:38646926..38648943-chr13:38649101..38651879,3	K562	blood:
7	chr13:38697528..38699053-chr13:38760202..38763046,2	MCF-7	breast:
8	chr13:38619821..38620466-chr13:39104363..39105281,2	MCF-7	breast:
9	chr13:38341398..38342310-chr13:38619796..38620598,3	MCF-7	breast:
10	chr13:38444174..38445062-chr13:38619564..38620172,4	MCF-7	breast:
11	chr13:38214466..38215276-chr13:38619175..38620143,2	MCF-7	breast:
12	chr13:38214293..38215171-chr13:38619746..38620556,2	MCF-7	breast:
13	chr13:38619772..38620317-chr13:39337583..39338487,2	MCF-7	breast:
14	chr13:38343140..38343850-chr13:38619631..38620180,3	K562	blood:
15	chr13:38343183..38343822-chr13:38619567..38620143,2	MCF-7	breast:
16	chr13:38444501..38445012-chr13:38619704..38620553,2	K562	blood:
17	chr13:38646926..38648943-chr13:38649101..38651879,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPC4-1	chr13:38627030-38627208	NONHSAT033261
2	lnc-TRPC4-1	chr13:38624954-38625018	NONHSAT033261
3	lnc-TRPC4-1	chr13:38633656-38633845	ENSG00000223685
4	lnc-UFM1-12	chr13:38618088-38620549	NONHSAT033258
5	lnc-TRPC4-1	chr13:38635533-38635585	ENSG00000223685
6	lnc-TRPC4-1	chr13:38648085-38648325	NONHSAT033261
7	lnc-TRPC4-1	chr13:38636286-38636371	NONHSAT033261
8	lnc-UFM1-12	chr13:38618088-38618419	NONHSAT140119
9	lnc-TRPC4-1	chr13:38635533-38635590	NONHSAT033261
10	lnc-TRPC4-1	chr13:38635533-38635590	ENSG00000223685
11	lnc-TRPC4-1	chr13:38667563-38667685	NONHSAT033261
12	lnc-TRPC4-1	chr13:38663710-38663797	NONHSAT033261
13	lnc-TRPC4-1	chr13:38628057-38628306	ENSG00000223685
14	lnc-TRPC4-1	chr13:38627835-38628306	ENSG00000223685
15	lnc-TRPC4-1	chr13:38628212-38628306	NONHSAT033261

No data

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

Extended variants
information (count: 2712 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2712 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4272903	chr13:38608928-38608929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557735482	chr13:38608946-38608947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577819389	chr13:38608951-38608952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59602350	chr13:38609062-38609063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540905434	chr13:38609092-38609093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573857539	chr13:38609146-38609147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542878387	chr13:38609147-38609148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561033142	chr13:38609174-38609175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559852215	chr13:38609197-38609198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4553472	chr13:38609218-38609219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9603313	chr13:38609255-38609256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545027690	chr13:38609372-38609373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532390206	chr13:38609458-38609459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186870658	chr13:38609459-38609460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565293291	chr13:38609474-38609475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541367318	chr13:38609537-38609538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75573060	chr13:38609539-38609540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149195844	chr13:38609567-38609568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371728214	chr13:38609571-38609572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561276768	chr13:38609594-38609595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530195399	chr13:38609613-38609614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143321343	chr13:38609614-38609615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565589663	chr13:38609617-38609618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534722651	chr13:38609629-38609630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575987061	chr13:38609635-38609636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139894543	chr13:38609656-38609657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398022390	chr13:38609657-38609658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551227144	chr13:38609773-38609774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571217689	chr13:38609786-38609787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537071507	chr13:38609814-38609815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557277855	chr13:38609835-38609836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115200962	chr13:38609885-38609886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148000913	chr13:38609915-38609916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536424549	chr13:38609937-38609938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201417913	chr13:38609972-38609973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78496720	chr13:38609979-38609980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67924307	chr13:38609980-38609981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9548161	chr13:38609983-38609984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373389534	chr13:38609986-38609987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375267099	chr13:38609989-38609990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530676073	chr13:38610014-38610015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190417078	chr13:38610019-38610020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148377838	chr13:38610022-38610023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545477714	chr13:38610023-38610024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377253756	chr13:38610031-38610032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10663548	chr13:38610032-38610033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386378851	chr13:38610037-38610038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398070271	chr13:38610040-38610041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373232470	chr13:38610047-38610048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150922213	chr13:38610055-38610056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38604200-38619200	Weak transcription	Pancreas	Pancrea
2	chr13:38606400-38621400	Weak transcription	Right Ventricle	heart
3	chr13:38615600-38619400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:38616000-38621200	Weak transcription	Liver	Liver
5	chr13:38617000-38617400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:38617400-38619000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr13:38618400-38618600	Enhancers	Fetal Muscle Trunk	muscle
8	chr13:38618400-38620200	ZNF genes & repeats	Aorta	Aorta
9	chr13:38618600-38619400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
10	chr13:38618600-38619800	ZNF genes & repeats	Lung	lung
11	chr13:38619200-38620200	ZNF genes & repeats	Pancreas	Pancrea
12	chr13:38619400-38619600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:38619400-38619800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:38619600-38620000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr13:38619600-38620000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:38619800-38620000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:38619800-38620400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:38620200-38621200	Weak transcription	Aorta	Aorta
19	chr13:38620200-38622400	Weak transcription	Ovary	ovary
20	chr13:38620200-38633600	Weak transcription	Pancreas	Pancrea
21	chr13:38621000-38621400	Active TSS	Colon Smooth Muscle	Colon
22	chr13:38621200-38621600	ZNF genes & repeats	Aorta	Aorta
23	chr13:38621200-38621600	ZNF genes & repeats	Liver	Liver
24	chr13:38621600-38624800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr13:38621600-38626200	Weak transcription	Liver	Liver
26	chr13:38621600-38633600	Weak transcription	Aorta	Aorta
27	chr13:38621800-38622000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:38623800-38624000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:38633600-38633800	ZNF genes & repeats	Aorta	Aorta
30	chr13:38633600-38633800	ZNF genes & repeats	Pancreas	Pancrea
31	chr13:38633800-38634000	Weak transcription	Pancreas	Pancrea
32	chr13:38633800-38635000	Weak transcription	Aorta	Aorta
33	chr13:38635000-38635200	ZNF genes & repeats	Aorta	Aorta
34	chr13:38645800-38646000	ZNF genes & repeats	Gastric	stomach
35	chr13:38648200-38648600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr13:38649800-38651800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr13:38650600-38650800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:38653200-38654400	Weak transcription	Gastric	stomach
39	chr13:38654400-38654600	ZNF genes & repeats	Gastric	stomach
40	chr13:38654600-38659800	Weak transcription	Gastric	stomach
41	chr13:38657600-38659800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:38658600-38659000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:38659000-38660800	Weak transcription	Pancreas	Pancrea
44	chr13:38659800-38661600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:38659800-38661800	ZNF genes & repeats	Gastric	stomach
46	chr13:38660000-38661600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:38660000-38661600	ZNF genes & repeats	Ovary	ovary
48	chr13:38660200-38661600	ZNF genes & repeats	Lung	lung
49	chr13:38660200-38663000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr13:38660400-38661400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin

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