Variant report

Variant	nsv900899
Chromosome Location	chr13:92705979-92779664
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	chr13:92706389-92707091	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:92727057-92727252	HepG2	liver:	n/a	n/a
3	BHLHE40	chr13:92706676-92707043	HepG2	liver:	n/a	n/a
4	BRCA1	chr13:92749581-92749765	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr13:92774725-92775096	IMR90	lung:	n/a	chr13:92774900-92774917 chr13:92774920-92774929 chr13:92774918-92774929 chr13:92774903-92774912 chr13:92774919-92774930 chr13:92774903-92774912 chr13:92774902-92774913 chr13:92774903-92774912
6	CEBPB	chr13:92713341-92713583	HepG2	liver:	n/a	chr13:92713478-92713491 chr13:92713478-92713489
7	CEBPB	chr13:92774824-92775081	A549	lung:	n/a	chr13:92774900-92774917 chr13:92774920-92774929 chr13:92774918-92774929 chr13:92774903-92774912 chr13:92774919-92774930 chr13:92774903-92774912 chr13:92774902-92774913 chr13:92774903-92774912
8	CEBPB	chr13:92726988-92727265	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr13:92751439-92751782	HepG2	liver:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
10	CEBPB	chr13:92774848-92775119	ECC-1	luminal epithelium:	n/a	chr13:92774900-92774917 chr13:92774920-92774929 chr13:92774918-92774929 chr13:92774903-92774912 chr13:92774919-92774930 chr13:92774903-92774912 chr13:92774902-92774913 chr13:92774903-92774912
11	CEBPB	chr13:92764641-92764921	A549	lung:	n/a	chr13:92764787-92764798 chr13:92764787-92764800 chr13:92764787-92764800 chr13:92764789-92764800 chr13:92764787-92764800
12	CEBPB	chr13:92706712-92707049	HepG2	liver:	n/a	n/a
13	CEBPB	chr13:92726979-92727255	HepG2	liver:	n/a	n/a
14	CEBPB	chr13:92764626-92764973	HepG2	liver:	n/a	chr13:92764787-92764798 chr13:92764787-92764800 chr13:92764787-92764800 chr13:92764789-92764800 chr13:92764787-92764800
15	CEBPB	chr13:92764704-92764936	H1-hESC	embryonic stem cell:	n/a	chr13:92764787-92764798 chr13:92764787-92764800 chr13:92764787-92764800 chr13:92764789-92764800 chr13:92764787-92764800
16	CEBPB	chr13:92764622-92764971	IMR90	lung:	n/a	chr13:92764787-92764798 chr13:92764787-92764800 chr13:92764787-92764800 chr13:92764789-92764800 chr13:92764787-92764800
17	CEBPB	chr13:92751507-92751691	H1-hESC	embryonic stem cell:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
18	CEBPB	chr13:92748980-92750038	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr13:92774738-92775090	HepG2	liver:	n/a	chr13:92774900-92774917 chr13:92774920-92774929 chr13:92774918-92774929 chr13:92774903-92774912 chr13:92774919-92774930 chr13:92774903-92774912 chr13:92774902-92774913 chr13:92774903-92774912
20	CEBPB	chr13:92774740-92775086	A549	lung:	n/a	chr13:92774900-92774917 chr13:92774920-92774929 chr13:92774918-92774929 chr13:92774903-92774912 chr13:92774919-92774930 chr13:92774903-92774912 chr13:92774902-92774913 chr13:92774903-92774912
21	CEBPB	chr13:92774715-92775122	Hela-S3	cervix:	n/a	chr13:92774900-92774917 chr13:92774920-92774929 chr13:92774918-92774929 chr13:92774903-92774912 chr13:92774919-92774930 chr13:92774903-92774912 chr13:92774902-92774913 chr13:92774903-92774912
22	CEBPB	chr13:92774842-92775127	ECC-1	luminal epithelium:	n/a	chr13:92774900-92774917 chr13:92774920-92774929 chr13:92774918-92774929 chr13:92774903-92774912 chr13:92774919-92774930 chr13:92774903-92774912 chr13:92774902-92774913 chr13:92774903-92774912
23	CEBPB	chr13:92706703-92707067	HepG2	liver:	n/a	n/a
24	CEBPB	chr13:92774742-92775085	H1-hESC	embryonic stem cell:	n/a	chr13:92774900-92774917 chr13:92774920-92774929 chr13:92774918-92774929 chr13:92774903-92774912 chr13:92774919-92774930 chr13:92774903-92774912 chr13:92774902-92774913 chr13:92774903-92774912
25	CEBPB	chr13:92751454-92751798	IMR90	lung:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
26	CEBPB	chr13:92706699-92707027	HepG2	liver:	n/a	n/a
27	CEBPB	chr13:92706727-92707008	HepG2	liver:	n/a	n/a
28	CEBPB	chr13:92774790-92774949	K562	blood:	n/a	chr13:92774900-92774917 chr13:92774920-92774929 chr13:92774918-92774929 chr13:92774903-92774912 chr13:92774919-92774930 chr13:92774903-92774912 chr13:92774902-92774913 chr13:92774903-92774912
29	CEBPB	chr13:92751464-92751697	A549	lung:	n/a	chr13:92751617-92751628 chr13:92751616-92751629 chr13:92751616-92751627
30	CEBPD	chr13:92706774-92706956	HepG2	liver:	n/a	n/a
31	CHD2	chr13:92749655-92749821	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr13:92727031-92727160	SK-N-SH_RA	brain:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
33	CTCF	chr13:92727040-92727190	HA-sp	spinal cord:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
34	CTCF	chr13:92727040-92727190	HRPEpiC	eye:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
35	CTCF	chr13:92727021-92727219	GM12878	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
36	CTCF	chr13:92727402-92727429	Medullo	brain:	n/a	n/a
37	CTCF	chr13:92726958-92727308	GM12878	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
38	CTCF	chr13:92727060-92727210	Hela-S3	cervix:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
39	CTCF	chr13:92727040-92727190	HPAF	blood vessel:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
40	CTCF	chr13:92727020-92727170	GM12866	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
41	CTCF	chr13:92727040-92727190	Caco-2	colon:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
42	CTCF	chr13:92756380-92756530	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr13:92727100-92727250	HFF-Myc	foreskin:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727106-92727119
44	CTCF	chr13:92727000-92727150	HRE	kidney:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
45	CTCF	chr13:92726908-92727296	HepG2	liver:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
46	CTCF	chr13:92727020-92727170	GM12875	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
47	CTCF	chr13:92727040-92727190	GM12874	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
48	CTCF	chr13:92727120-92727270	HCM	heart:	n/a	n/a
49	CTCF	chr13:92727040-92727190	GM12872	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119
50	CTCF	chr13:92727000-92727150	GM12871	blood:	n/a	chr13:92727105-92727121 chr13:92727104-92727122 chr13:92727099-92727120 chr13:92727106-92727119

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:92598658..92599490-chr13:92726652..92727595,3	MCF-7	breast:
2	chr13:92777089..92778054-chr2:189460184..189460902,2	MCF-7	breast:

Variant related genes	Relation type
RNU4ATAC3P	TF binding region

Extended variants
information (count: 404 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1977398	chr13:92705979-92705980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554830194	chr13:92706031-92706032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544087478	chr13:92706043-92706044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574827279	chr13:92706049-92706050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540404722	chr13:92706068-92706069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1977397	chr13:92706142-92706143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574833306	chr13:92706226-92706227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11070009	chr13:92706254-92706255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374840034	chr13:92706286-92706287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71113788	chr13:92706324-92706325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56703718	chr13:92706327-92706328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372449680	chr13:92706403-92706404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552484044	chr13:92706478-92706479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139252331	chr13:92706479-92706480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185598998	chr13:92706506-92706507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367683551	chr13:92706574-92706575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551616035	chr13:92706583-92706584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73623573	chr13:92706612-92706613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563042672	chr13:92706745-92706746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531891474	chr13:92706761-92706762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548484335	chr13:92706773-92706774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568681552	chr13:92706881-92706882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571401061	chr13:92706888-92706889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536327904	chr13:92706894-92706895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546735759	chr13:92706920-92706921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141221985	chr13:92706923-92706924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190518597	chr13:92706939-92706940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544737838	chr13:92706945-92706946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372764843	chr13:92706977-92706978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558776119	chr13:92706998-92706999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150291329	chr13:92707001-92707002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs137926882	chr13:92707003-92707004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376636052	chr13:92707017-92707018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11451007	chr13:92707087-92707088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397825991	chr13:92707090-92707091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397783460	chr13:92707091-92707092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554447009	chr13:92707094-92707095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574326076	chr13:92707215-92707216	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs182446255	chr13:92707238-92707239	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs530422621	chr13:92707239-92707240	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs185847539	chr13:92707245-92707246	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs538605438	chr13:92707293-92707294	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs149526808	chr13:92707361-92707362	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs188303960	chr13:92707421-92707422	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs368399945	chr13:92707435-92707436	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs562940377	chr13:92707476-92707477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531905559	chr13:92707599-92707600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541636554	chr13:92708450-92708451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs564717844	chr13:92708466-92708467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs187450766	chr13:92708469-92708470	Inactive region	TF binding region	1 gene(s)	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92705400-92707600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr13:92706000-92707600	Enhancers	HepG2	liver
3	chr13:92706400-92706800	Enhancers	Fetal Intestine Small	intestine
4	chr13:92706400-92707600	Enhancers	Liver	Liver
5	chr13:92727000-92727600	Enhancers	Fetal Lung	lung
6	chr13:92734200-92735600	Enhancers	Fetal Heart	heart
7	chr13:92748800-92749800	Enhancers	Hela-S3	cervix
8	chr13:92753000-92755200	Enhancers	Fetal Heart	heart
9	chr13:92753600-92753800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:92753600-92754000	Enhancers	Colon Smooth Muscle	Colon
11	chr13:92754000-92755200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:92754000-92755800	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:92754200-92756200	Enhancers	Ovary	ovary
14	chr13:92754200-92757200	Enhancers	Fetal Lung	lung
15	chr13:92755000-92755400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:92755000-92755600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:92755000-92756600	Enhancers	Fetal Kidney	kidney
18	chr13:92755200-92755600	Weak transcription	Fetal Heart	heart
19	chr13:92755200-92756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:92755200-92756400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr13:92755600-92756000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:92755600-92756400	Enhancers	Fetal Heart	heart
23	chr13:92755800-92756200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:92755800-92756400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:92755800-92756400	Enhancers	Colon Smooth Muscle	Colon
26	chr13:92755800-92756400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr13:92755800-92756600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:92755800-92756600	Enhancers	Fetal Intestine Large	intestine
29	chr13:92755800-92756600	Enhancers	Fetal Stomach	stomach
30	chr13:92755800-92757800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:92756000-92756600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:92756000-92756600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr13:92756000-92756600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:92756000-92756600	Enhancers	Fetal Intestine Small	intestine
35	chr13:92756000-92756600	Enhancers	Pancreas	Pancrea
36	chr13:92756200-92757000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:92757000-92757200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:92772000-92772600	Enhancers	Fetal Heart	heart
39	chr13:92774200-92774400	Enhancers	Fetal Heart	heart

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