Variant report

Variant	nsv900840
Chromosome Location	chr13:89516104-89686507
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	ATF2	chr13:89572186-89572643	GM12878	blood:	n/a	n/a
2	ATF2	chr13:89572207-89572528	GM12878	blood:	n/a	n/a
3	BACH1	chr13:89623437-89623444	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr13:89572273-89572568	GM12878	blood:	n/a	n/a
5	BATF	chr13:89572277-89572559	GM12878	blood:	n/a	n/a
6	BATF	chr13:89561544-89561732	GM12878	blood:	n/a	n/a
7	BCL11A	chr13:89572223-89572570	GM12878	blood:	n/a	n/a
8	BHLHE40	chr13:89572310-89572510	GM12878	blood:	n/a	n/a
9	BHLHE40	chr13:89632073-89632317	GM12878	blood:	n/a	n/a
10	BHLHE40	chr13:89643606-89643700	GM12878	blood:	n/a	n/a
11	CEBPB	chr13:89630930-89631228	H1-hESC	embryonic stem cell:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
12	CEBPB	chr13:89630897-89631243	HepG2	liver:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
13	CEBPB	chr13:89596083-89596253	HepG2	liver:	n/a	chr13:89596117-89596128 chr13:89596118-89596129
14	CEBPB	chr13:89598062-89598418	H1-hESC	embryonic stem cell:	n/a	chr13:89598238-89598249
15	CEBPB	chr13:89598060-89598453	ECC-1	luminal epithelium:	n/a	chr13:89598238-89598249
16	CEBPB	chr13:89630896-89631259	IMR90	lung:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
17	CEBPB	chr13:89598067-89598413	Hela-S3	cervix:	n/a	chr13:89598238-89598249
18	CEBPB	chr13:89598032-89598441	A549	lung:	n/a	chr13:89598238-89598249
19	CEBPB	chr13:89630916-89631254	A549	lung:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
20	CEBPB	chr13:89598055-89598434	IMR90	lung:	n/a	chr13:89598238-89598249
21	CEBPB	chr13:89598071-89598408	K562	blood:	n/a	chr13:89598238-89598249
22	CEBPB	chr13:89598017-89598337	ECC-1	luminal epithelium:	n/a	chr13:89598238-89598249
23	CEBPB	chr13:89539359-89539639	HepG2	liver:	n/a	n/a
24	CEBPB	chr13:89630955-89631172	K562	blood:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
25	CEBPB	chr13:89598063-89598417	A549	lung:	n/a	chr13:89598238-89598249
26	CEBPB	chr13:89598062-89598430	HepG2	liver:	n/a	chr13:89598238-89598249
27	CHD2	chr13:89557803-89557932	GM12878	blood:	n/a	n/a
28	CHD2	chr13:89633926-89634048	HepG2	liver:	n/a	n/a
29	CHD2	chr13:89572254-89572531	GM12878	blood:	n/a	n/a
30	CTCF	chr13:89539720-89539844	GM12878	blood:	n/a	n/a
31	CTCF	chr13:89539473-89539524	MCF-7	breast:	n/a	n/a
32	CTCF	chr13:89632220-89632370	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr13:89632180-89632330	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr13:89539652-89539829	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr13:89539660-89539810	GM12865	blood:	n/a	n/a
36	CTCF	chr13:89539708-89539825	GM12891	blood:	n/a	n/a
37	CTCF	chr13:89632200-89632350	Caco-2	colon:	n/a	n/a
38	CTCF	chr13:89631860-89632010	BE2_C	brain:	n/a	n/a
39	CTCF	chr13:89632188-89632363	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr13:89539700-89539850	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr13:89632185-89632187	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr13:89632158-89632339	NHEK	skin:	n/a	n/a
43	CTCF	chr13:89632180-89632330	HEK293	kidney:	n/a	n/a
44	CTCF	chr13:89632180-89632330	HL-60	blood:	n/a	n/a
45	CTCF	chr13:89632220-89632370	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr13:89539700-89539850	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr13:89632261-89632278	Lung_OC	lung:	n/a	n/a
48	CTCF	chr13:89539700-89539850	Caco-2	colon:	n/a	n/a
49	CTCF	chr13:89632140-89632290	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr13:89539700-89539809	NHEK	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:89528545..89531167-chr13:91999570..92001170,2	K562	blood:
2	chr13:89606576..89609218-chr13:89612592..89614304,2	K562	blood:
3	chr13:89606576..89609218-chr13:89612592..89614304,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-22	chr13:89630701-89631039	NONHSAT034619
2	lnc-SLITRK6-23	chr13:89627587-89627859	l_898_chr13:89627586-89633831_testes
3	lnc-SLITRK6-23	chr13:89627871-89627986	l_898_chr13:89627586-89633831_testes
4	lnc-SLITRK6-23	chr13:89633752-89633831	l_898_chr13:89627586-89633831_testes
5	lnc-SLITRK6-21	chr13:89556163-89556457	l_897_chr13:89556162-89558584_testes
6	lnc-SLITRK6-21	chr13:89558109-89558584	l_897_chr13:89556162-89558584_testes

Variant related genes	Relation type
GRPEL2P1	TF binding region
ENSG00000215417	chromatin interactions

Extended variants
information (count: 1845 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1845 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2785874	chr13:89516104-89516105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552940388	chr13:89516176-89516177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186855266	chr13:89516205-89516206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1970269	chr13:89516229-89516230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549567884	chr13:89516232-89516233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568137134	chr13:89516234-89516235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535219862	chr13:89516242-89516243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4366585	chr13:89516245-89516246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546051372	chr13:89516266-89516267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191493387	chr13:89516277-89516278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372656117	chr13:89516282-89516283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539315403	chr13:89516289-89516290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558055573	chr13:89516297-89516298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576110028	chr13:89516300-89516301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543612741	chr13:89516303-89516304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562862460	chr13:89516313-89516314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574987127	chr13:89516315-89516316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375774603	chr13:89516317-89516318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183428573	chr13:89516322-89516323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544159830	chr13:89516323-89516324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552545931	chr13:89516332-89516333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564808180	chr13:89516333-89516334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531949542	chr13:89516346-89516347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550345536	chr13:89516367-89516368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568343036	chr13:89516371-89516372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550537877	chr13:89516373-89516374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185455450	chr13:89516375-89516376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189720659	chr13:89516376-89516377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185175861	chr13:89519009-89519010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563951294	chr13:89519011-89519012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190708024	chr13:89519017-89519018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116907537	chr13:89519037-89519038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150879156	chr13:89519060-89519061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553775902	chr13:89519068-89519069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139744066	chr13:89519114-89519115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573642729	chr13:89519128-89519129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576909296	chr13:89519129-89519130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546868710	chr13:89519152-89519153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184223815	chr13:89519167-89519168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553151478	chr13:89519269-89519270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144543279	chr13:89519351-89519352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188770916	chr13:89519393-89519394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569062496	chr13:89519419-89519420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112899047	chr13:89519474-89519475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530899234	chr13:89519495-89519496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549083172	chr13:89519506-89519507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539587452	chr13:89519520-89519521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556338250	chr13:89519540-89519541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567297700	chr13:89519589-89519590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146176099	chr13:89519590-89519591	Weak transcription	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-syndromic sensorineural hearing loss	21293372	CNVD
Non-small cell lung cancer	16651412	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89514800-89516200	Weak transcription	Fetal Brain Male	brain
2	chr13:89516200-89516400	Enhancers	Fetal Brain Male	brain
3	chr13:89519000-89519400	Enhancers	Dnd41	blood
4	chr13:89519400-89519800	Weak transcription	Dnd41	blood
5	chr13:89519800-89521800	Enhancers	Dnd41	blood
6	chr13:89526000-89527000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:89538000-89538200	Enhancers	Fetal Lung	lung
8	chr13:89538000-89538800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:89539200-89539800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:89539400-89539600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:89539400-89539800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:89539600-89539800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:89539600-89539800	Enhancers	HepG2	liver
14	chr13:89539800-89547600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:89539800-89547600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:89539800-89548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:89547600-89548000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:89547600-89549000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:89547800-89548400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:89548800-89549000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:89548800-89549000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr13:89549000-89549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:89557200-89558000	Enhancers	Dnd41	blood
24	chr13:89558000-89560200	Weak transcription	Dnd41	blood
25	chr13:89560200-89562200	Enhancers	Dnd41	blood
26	chr13:89560200-89562600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:89561000-89561600	Enhancers	Primary hematopoietic stem cells	blood
28	chr13:89561000-89561600	Enhancers	Brain Hippocampus Middle	brain
29	chr13:89561000-89562000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:89561000-89562200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:89561200-89561600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:89561200-89561600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr13:89561200-89561600	Enhancers	Brain Angular Gyrus	brain
34	chr13:89561200-89561800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr13:89561200-89561800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:89561200-89561800	Enhancers	Adipose Nuclei	Adipose
37	chr13:89561200-89561800	Enhancers	Fetal Muscle Leg	muscle
38	chr13:89561200-89562000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:89561200-89562000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:89561200-89562000	Enhancers	HMEC	breast
41	chr13:89561200-89562000	Enhancers	NHEK	skin
42	chr13:89561200-89562600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr13:89571000-89571600	Enhancers	Dnd41	blood
44	chr13:89571400-89571600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr13:89571400-89573000	Enhancers	Primary B cells from peripheral blood	blood
46	chr13:89571600-89572400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr13:89571600-89572400	Flanking Active TSS	Dnd41	blood
48	chr13:89571600-89572400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr13:89571600-89572800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:89571600-89573200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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