Variant report

Variant	nsv900843
Chromosome Location	chr13:89583854-89686507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:89623437-89623444	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr13:89643606-89643700	GM12878	blood:	n/a	n/a
3	BHLHE40	chr13:89632073-89632317	GM12878	blood:	n/a	n/a
4	CEBPB	chr13:89630930-89631228	H1-hESC	embryonic stem cell:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
5	CEBPB	chr13:89596083-89596253	HepG2	liver:	n/a	chr13:89596117-89596128 chr13:89596118-89596129
6	CEBPB	chr13:89630896-89631259	IMR90	lung:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
7	CEBPB	chr13:89598067-89598413	Hela-S3	cervix:	n/a	chr13:89598238-89598249
8	CEBPB	chr13:89598071-89598408	K562	blood:	n/a	chr13:89598238-89598249
9	CEBPB	chr13:89598063-89598417	A549	lung:	n/a	chr13:89598238-89598249
10	CEBPB	chr13:89630955-89631172	K562	blood:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
11	CEBPB	chr13:89598062-89598430	HepG2	liver:	n/a	chr13:89598238-89598249
12	CEBPB	chr13:89598055-89598434	IMR90	lung:	n/a	chr13:89598238-89598249
13	CEBPB	chr13:89598062-89598418	H1-hESC	embryonic stem cell:	n/a	chr13:89598238-89598249
14	CEBPB	chr13:89598060-89598453	ECC-1	luminal epithelium:	n/a	chr13:89598238-89598249
15	CEBPB	chr13:89598032-89598441	A549	lung:	n/a	chr13:89598238-89598249
16	CEBPB	chr13:89630897-89631243	HepG2	liver:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
17	CEBPB	chr13:89598017-89598337	ECC-1	luminal epithelium:	n/a	chr13:89598238-89598249
18	CEBPB	chr13:89630916-89631254	A549	lung:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
19	CHD2	chr13:89633926-89634048	HepG2	liver:	n/a	n/a
20	CTCF	chr13:89632160-89632310	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr13:89632202-89632296	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr13:89632100-89632250	NB4	blood:	n/a	n/a
23	CTCF	chr13:89674781-89674852	Lung_OC	lung:	n/a	n/a
24	CTCF	chr13:89632205-89632259	GM19238	blood:	n/a	n/a
25	CTCF	chr13:89632160-89632310	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr13:89606280-89606430	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr13:89632160-89632310	BE2_C	brain:	n/a	n/a
28	CTCF	chr13:89631830-89632536	SK-N-SH	brain:	n/a	n/a
29	CTCF	chr13:89632250-89632312	MCF-7	breast:	n/a	n/a
30	CTCF	chr13:89632100-89632250	HMEC	breast:	n/a	n/a
31	CTCF	chr13:89632188-89632294	GM12891	blood:	n/a	n/a
32	CTCF	chr13:89614164-89614252	GM13976	blood:	n/a	n/a
33	CTCF	chr13:89632231-89632375	GM10248	blood:	n/a	n/a
34	CTCF	chr13:89632180-89632330	HL-60	blood:	n/a	n/a
35	CTCF	chr13:89630948-89631021	Fibrobl	skin:	n/a	n/a
36	CTCF	chr13:89631860-89632010	BE2_C	brain:	n/a	n/a
37	CTCF	chr13:89632220-89632370	GM12873	blood:	n/a	n/a
38	CTCF	chr13:89632180-89632330	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr13:89632195-89632320	Medullo	brain:	n/a	n/a
40	CTCF	chr13:89632065-89632498	GM12878	blood:	n/a	n/a
41	CTCF	chr13:89643087-89643175	Lung_OC	lung:	n/a	n/a
42	CTCF	chr13:89632188-89632345	GM12878	blood:	n/a	n/a
43	CTCF	chr13:89632160-89632310	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr13:89632280-89632430	HMEC	breast:	n/a	n/a
45	CTCF	chr13:89632220-89632370	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr13:89632200-89632350	Caco-2	colon:	n/a	n/a
47	CTCF	chr13:89632220-89632370	BE2_C	brain:	n/a	n/a
48	CTCF	chr13:89632180-89632330	HPF	lung:	n/a	n/a
49	CTCF	chr13:89632237-89632286	MCF-7	breast:	n/a	n/a
50	CTCF	chr13:89632158-89632339	NHEK	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:89606576..89609218-chr13:89612592..89614304,2	K562	blood:
2	chr13:89606576..89609218-chr13:89612592..89614304,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-23	chr13:89627587-89627859	l_898_chr13:89627586-89633831_testes
2	lnc-SLITRK6-23	chr13:89627871-89627986	l_898_chr13:89627586-89633831_testes
3	lnc-SLITRK6-22	chr13:89630701-89631039	NONHSAT034619
4	lnc-SLITRK6-23	chr13:89633752-89633831	l_898_chr13:89627586-89633831_testes

Variant related genes	Relation type
GRPEL2P1	TF binding region

Extended variants
information (count: 634 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1819591	chr13:89583854-89583855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78297006	chr13:89583974-89583975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569440565	chr13:89584016-89584017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185197499	chr13:89584027-89584028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7987472	chr13:89584028-89584029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544614565	chr13:89584048-89584049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189686965	chr13:89584078-89584079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575186208	chr13:89584122-89584123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542540798	chr13:89584133-89584134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141695221	chr13:89584203-89584204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184090977	chr13:89584258-89584259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528327079	chr13:89584262-89584263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs41443945	chr13:89584265-89584266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559797092	chr13:89584269-89584270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7985913	chr13:89584291-89584292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551824591	chr13:89584301-89584302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570096002	chr13:89584342-89584343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537727659	chr13:89584418-89584419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188880643	chr13:89584442-89584443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191628901	chr13:89584502-89584503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535225006	chr13:89584531-89584532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183538626	chr13:89584584-89584585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145476119	chr13:89584604-89584605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72641280	chr13:89584683-89584684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556515926	chr13:89584691-89584692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371740961	chr13:89584700-89584701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574927925	chr13:89584764-89584765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188069601	chr13:89584793-89584794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142696123	chr13:89584869-89584870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs41478745	chr13:89584922-89584923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534571221	chr13:89584964-89584965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191875058	chr13:89584998-89584999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150609583	chr13:89585019-89585020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114957647	chr13:89585020-89585021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376114479	chr13:89585051-89585052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116675795	chr13:89585064-89585065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571253465	chr13:89585098-89585099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527691731	chr13:89585099-89585100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551941779	chr13:89585191-89585192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563666081	chr13:89585222-89585223	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530975037	chr13:89585302-89585303	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549365995	chr13:89585305-89585306	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558094243	chr13:89585385-89585386	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs184110280	chr13:89585435-89585436	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534872679	chr13:89585451-89585452	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs76034344	chr13:89585472-89585473	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs10467313	chr13:89585504-89585505	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs538330611	chr13:89585516-89585517	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556678060	chr13:89585553-89585554	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs568508295	chr13:89585595-89585596	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	16651412	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89579800-89585000	Weak transcription	Dnd41	blood
2	chr13:89585000-89585200	Enhancers	Dnd41	blood
3	chr13:89585200-89585600	Flanking Active TSS	Dnd41	blood
4	chr13:89585600-89586200	Enhancers	Dnd41	blood
5	chr13:89589600-89590800	Enhancers	Primary B cells from peripheral blood	blood
6	chr13:89589800-89590800	Enhancers	Primary B cells from cord blood	blood
7	chr13:89590400-89590800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr13:89596200-89597000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:89606200-89606800	Enhancers	Adipose Nuclei	Adipose
10	chr13:89606800-89611000	Weak transcription	Adipose Nuclei	Adipose
11	chr13:89611000-89611800	Enhancers	Adipose Nuclei	Adipose
12	chr13:89611000-89612000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr13:89611200-89611600	Enhancers	Fetal Heart	heart
14	chr13:89631400-89631600	Enhancers	Fetal Heart	heart
15	chr13:89631600-89632000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:89631600-89632200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:89631600-89632200	Flanking Active TSS	Fetal Heart	heart
18	chr13:89631800-89632200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr13:89631800-89632200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:89631800-89632200	Enhancers	Brain Substantia Nigra	brain
21	chr13:89631800-89632200	Enhancers	Fetal Lung	lung
22	chr13:89631800-89632400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr13:89632200-89632800	Enhancers	Fetal Heart	heart
24	chr13:89645200-89646800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:89681000-89681800	Enhancers	Dnd41	blood
26	chr13:89681800-89682800	Weak transcription	Dnd41	blood
27	chr13:89682800-89683000	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links