Variant report

Variant	nsv900896
Chromosome Location	chr13:92694069-92747114
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	ARID3A	chr13:92727057-92727252	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:92706389-92707091	HepG2	liver:	n/a	n/a
3	BHLHE40	chr13:92706676-92707043	HepG2	liver:	n/a	n/a
4	CEBPB	chr13:92726979-92727255	HepG2	liver:	n/a	n/a
5	CEBPB	chr13:92726988-92727265	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr13:92706727-92707008	HepG2	liver:	n/a	n/a
7	CEBPB	chr13:92700852-92701110	HepG2	liver:	n/a	chr13:92700942-92700953 chr13:92700942-92700955
8	CEBPB	chr13:92706699-92707027	HepG2	liver:	n/a	n/a
9	CEBPB	chr13:92706712-92707049	HepG2	liver:	n/a	n/a
10	CEBPB	chr13:92706703-92707067	HepG2	liver:	n/a	n/a
11	CEBPB	chr13:92713341-92713583	HepG2	liver:	n/a	chr13:92713478-92713491 chr13:92713478-92713489
12	CEBPD	chr13:92706774-92706956	HepG2	liver:	n/a	n/a
13	CTCF	chr13:92727013-92727253	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
14	CTCF	chr13:92727000-92727150	HMF	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
15	CTCF	chr13:92727020-92727170	AG04450	lung:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
16	CTCF	chr13:92727080-92727230	GM12878	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
17	CTCF	chr13:92727080-92727230	BE2_C	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
18	CTCF	chr13:92727055-92727146	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
19	CTCF	chr13:92727130-92727137	MCF-7	breast:	n/a	n/a
20	CTCF	chr13:92726820-92726970	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr13:92727020-92727170	GM12872	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
22	CTCF	chr13:92726985-92727258	SK-N-SH_RA	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
23	CTCF	chr13:92726540-92726690	NHEK	skin:	n/a	n/a
24	CTCF	chr13:92727060-92727210	HMEC	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
25	CTCF	chr13:92726980-92727130	SAEC	small airway:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
26	CTCF	chr13:92727060-92727210	HRPEpiC	eye:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
27	CTCF	chr13:92726988-92727232	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
28	CTCF	chr13:92727008-92727213	GM13977	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
29	CTCF	chr13:92726958-92727308	GM12878	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
30	CTCF	chr13:92727000-92727150	HRE	kidney:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
31	CTCF	chr13:92727000-92727150	GM12871	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
32	CTCF	chr13:92726990-92727248	LNCaP	prostate:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
33	CTCF	chr13:92716580-92716638	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr13:92727020-92727170	SK-N-SH_RA	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
35	CTCF	chr13:92716480-92716630	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr13:92727004-92727220	MCF-7	breast:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
37	CTCF	chr13:92727040-92727190	GM12873	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
38	CTCF	chr13:92727014-92727219	Pancreas_OC	pancreas:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
39	CTCF	chr13:92727008-92727231	Hela-S3	cervix:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
40	CTCF	chr13:92727026-92727173	A549	lung:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
41	CTCF	chr13:92727028-92727177	GM19239	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
42	CTCF	chr13:92727044-92727157	GM19240	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
43	CTCF	chr13:92727003-92727188	GM10266	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
44	CTCF	chr13:92727020-92727170	GM12873	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
45	CTCF	chr13:92746737-92746809	GM10248	blood:	n/a	n/a
46	CTCF	chr13:92727020-92727170	GM12865	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
47	CTCF	chr13:92716596-92716687	HepG2	liver:	n/a	n/a
48	CTCF	chr13:92727020-92727170	NB4	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
49	CTCF	chr13:92727040-92727190	HBMEC	blood vessel:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
50	CTCF	chr13:92726980-92727130	NHEK	skin:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119

No.	Distal block	Cell Line	Cell type
1	chr13:92696291..92699011-chr13:92703757..92705620,2	K562	blood:
2	chr13:92696291..92699011-chr13:92703757..92705620,2	K562	blood:
3	chr13:92598658..92599490-chr13:92726652..92727595,3	MCF-7	breast:

Variant related genes	Relation type
RNU4ATAC3P	TF binding region

Extended variants
information (count: 219 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7327060	chr13:92696684-92696685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527393995	chr13:92696737-92696738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7327242	chr13:92696769-92696770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181946855	chr13:92696777-92696778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539066638	chr13:92696821-92696822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117964934	chr13:92696872-92696873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538968605	chr13:92696874-92696875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569623294	chr13:92696990-92696991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535224125	chr13:92697027-92697028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7325691	chr13:92697032-92697033	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375781983	chr13:92697037-92697038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77938530	chr13:92697058-92697059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564667425	chr13:92697068-92697069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7327753	chr13:92697080-92697081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534569188	chr13:92697108-92697109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9560904	chr13:92697122-92697123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142845907	chr13:92697183-92697184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543855310	chr13:92697226-92697227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115065861	chr13:92697266-92697267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116477941	chr13:92697267-92697268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372219204	chr13:92697290-92697291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543355517	chr13:92697302-92697303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559673336	chr13:92697317-92697318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528709672	chr13:92697342-92697343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540739657	chr13:92697357-92697358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376746063	chr13:92697385-92697386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151062270	chr13:92697386-92697387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs118068926	chr13:92705422-92705423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184015168	chr13:92705503-92705504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149213246	chr13:92705505-92705506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7325647	chr13:92705511-92705512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565060246	chr13:92705523-92705524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530635878	chr13:92705564-92705565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544666879	chr13:92705565-92705566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143405212	chr13:92705617-92705618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530064894	chr13:92705621-92705622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147921034	chr13:92705625-92705626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9301774	chr13:92705641-92705642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188892800	chr13:92705649-92705650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141762280	chr13:92705656-92705657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569398045	chr13:92705682-92705683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538076840	chr13:92705687-92705688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546852409	chr13:92705750-92705751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550601561	chr13:92705752-92705753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540016708	chr13:92705771-92705772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192284780	chr13:92705772-92705773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538732538	chr13:92705776-92705777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7490573	chr13:92705805-92705806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552999402	chr13:92705822-92705823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572913569	chr13:92705841-92705842	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Metanephric adenoma	20802469	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92696600-92697000	Enhancers	Liver	Liver
2	chr13:92696600-92697400	Enhancers	Fetal Heart	heart
3	chr13:92705400-92707600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr13:92706000-92707600	Enhancers	HepG2	liver
5	chr13:92706400-92706800	Enhancers	Fetal Intestine Small	intestine
6	chr13:92706400-92707600	Enhancers	Liver	Liver
7	chr13:92727000-92727600	Enhancers	Fetal Lung	lung
8	chr13:92734200-92735600	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links