Variant report

Variant	nsv1043687
Chromosome Location	chr13:89523570-89673179
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	chr13:89572207-89572528	GM12878	blood:	n/a	n/a
2	ATF2	chr13:89572186-89572643	GM12878	blood:	n/a	n/a
3	BACH1	chr13:89623437-89623444	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr13:89561544-89561732	GM12878	blood:	n/a	n/a
5	BATF	chr13:89572273-89572568	GM12878	blood:	n/a	n/a
6	BATF	chr13:89572277-89572559	GM12878	blood:	n/a	n/a
7	BCL11A	chr13:89572223-89572570	GM12878	blood:	n/a	n/a
8	BHLHE40	chr13:89643606-89643700	GM12878	blood:	n/a	n/a
9	BHLHE40	chr13:89572310-89572510	GM12878	blood:	n/a	n/a
10	BHLHE40	chr13:89632073-89632317	GM12878	blood:	n/a	n/a
11	CEBPB	chr13:89598063-89598417	A549	lung:	n/a	chr13:89598238-89598249
12	CEBPB	chr13:89598067-89598413	Hela-S3	cervix:	n/a	chr13:89598238-89598249
13	CEBPB	chr13:89598062-89598430	HepG2	liver:	n/a	chr13:89598238-89598249
14	CEBPB	chr13:89539359-89539639	HepG2	liver:	n/a	n/a
15	CEBPB	chr13:89630916-89631254	A549	lung:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
16	CEBPB	chr13:89598055-89598434	IMR90	lung:	n/a	chr13:89598238-89598249
17	CEBPB	chr13:89630930-89631228	H1-hESC	embryonic stem cell:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
18	CEBPB	chr13:89598062-89598418	H1-hESC	embryonic stem cell:	n/a	chr13:89598238-89598249
19	CEBPB	chr13:89630896-89631259	IMR90	lung:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
20	CEBPB	chr13:89630897-89631243	HepG2	liver:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
21	CEBPB	chr13:89598071-89598408	K562	blood:	n/a	chr13:89598238-89598249
22	CEBPB	chr13:89630955-89631172	K562	blood:	n/a	chr13:89631078-89631089 chr13:89631076-89631093
23	CEBPB	chr13:89598017-89598337	ECC-1	luminal epithelium:	n/a	chr13:89598238-89598249
24	CEBPB	chr13:89598060-89598453	ECC-1	luminal epithelium:	n/a	chr13:89598238-89598249
25	CEBPB	chr13:89598032-89598441	A549	lung:	n/a	chr13:89598238-89598249
26	CEBPB	chr13:89596083-89596253	HepG2	liver:	n/a	chr13:89596117-89596128 chr13:89596118-89596129
27	CHD2	chr13:89572254-89572531	GM12878	blood:	n/a	n/a
28	CHD2	chr13:89557803-89557932	GM12878	blood:	n/a	n/a
29	CHD2	chr13:89633926-89634048	HepG2	liver:	n/a	n/a
30	CTCF	chr13:89539659-89539835	MCF-7	breast:	n/a	n/a
31	CTCF	chr13:89632185-89632187	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr13:89632065-89632498	GM12878	blood:	n/a	n/a
33	CTCF	chr13:89632192-89632374	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr13:89632200-89632350	Caco-2	colon:	n/a	n/a
35	CTCF	chr13:89539600-89539750	BE2_C	brain:	n/a	n/a
36	CTCF	chr13:89632202-89632296	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr13:89539473-89539524	MCF-7	breast:	n/a	n/a
38	CTCF	chr13:89632220-89632370	GM12873	blood:	n/a	n/a
39	CTCF	chr13:89539700-89539850	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr13:89632280-89632430	HMEC	breast:	n/a	n/a
41	CTCF	chr13:89606320-89606470	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr13:89632158-89632339	NHEK	skin:	n/a	n/a
43	CTCF	chr13:89539708-89539825	GM12891	blood:	n/a	n/a
44	CTCF	chr13:89632100-89632250	HMEC	breast:	n/a	n/a
45	CTCF	chr13:89632214-89632328	Gliobla	brain:	n/a	n/a
46	CTCF	chr13:89632199-89632351	LNCaP	prostate:	n/a	n/a
47	CTCF	chr13:89539700-89539850	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr13:89632205-89632259	GM19238	blood:	n/a	n/a
49	CTCF	chr13:89632220-89632370	BE2_C	brain:	n/a	n/a
50	CTCF	chr13:89539660-89539810	Caco-2	colon:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-21	chr13:89556163-89556457	l_897_chr13:89556162-89558584_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
5	lnc-SLITRK6-23	chr13:89627587-89627859	l_898_chr13:89627586-89633831_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: 1657 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1657 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566692003	chr13:89526001-89526002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535294733	chr13:89526038-89526039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192608473	chr13:89526039-89526040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558502718	chr13:89526045-89526046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139714149	chr13:89526079-89526080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549317592	chr13:89526101-89526102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184636610	chr13:89526103-89526104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534525359	chr13:89526118-89526119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77704729	chr13:89526128-89526129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566036669	chr13:89526143-89526144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145293672	chr13:89526196-89526197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147630757	chr13:89526281-89526282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551053426	chr13:89526282-89526283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189085261	chr13:89526316-89526317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181553350	chr13:89526324-89526325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184908417	chr13:89526359-89526360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556155141	chr13:89526389-89526390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576045254	chr13:89526393-89526394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564773819	chr13:89526451-89526452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200112218	chr13:89526470-89526471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57823553	chr13:89526475-89526476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577644764	chr13:89526476-89526477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9560189	chr13:89526477-89526478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563243556	chr13:89526478-89526479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530520175	chr13:89526484-89526485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542900635	chr13:89526504-89526505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561154822	chr13:89526513-89526514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149112820	chr13:89526522-89526523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143223458	chr13:89526523-89526524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530598698	chr13:89526545-89526546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571453734	chr13:89526586-89526587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2807218	chr13:89526597-89526598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551464388	chr13:89526631-89526632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569687060	chr13:89526632-89526633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370108006	chr13:89526646-89526647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555374680	chr13:89526649-89526650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116360582	chr13:89526822-89526823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189418175	chr13:89526937-89526938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377640595	chr13:89526943-89526944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76803495	chr13:89528578-89528579	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569483792	chr13:89528594-89528595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536307119	chr13:89528641-89528642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201150144	chr13:89528682-89528683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12854525	chr13:89528717-89528718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554671238	chr13:89528723-89528724	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79817826	chr13:89528765-89528766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533766431	chr13:89528780-89528781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558295982	chr13:89528789-89528790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368585194	chr13:89528822-89528823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576722052	chr13:89528832-89528833	Inactive region	Chromatin interactive region	1 gene(s)	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89526000-89527000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:89538000-89538200	Enhancers	Fetal Lung	lung
3	chr13:89538000-89538800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:89539200-89539800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:89539400-89539600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:89539400-89539800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:89539600-89539800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:89539600-89539800	Enhancers	HepG2	liver
9	chr13:89539800-89547600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:89539800-89547600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:89539800-89548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:89547600-89548000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:89547600-89549000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:89547800-89548400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:89548800-89549000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:89548800-89549000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:89549000-89549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:89557200-89558000	Enhancers	Dnd41	blood
19	chr13:89558000-89560200	Weak transcription	Dnd41	blood
20	chr13:89560200-89562200	Enhancers	Dnd41	blood
21	chr13:89560200-89562600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:89561000-89561600	Enhancers	Primary hematopoietic stem cells	blood
23	chr13:89561000-89561600	Enhancers	Brain Hippocampus Middle	brain
24	chr13:89561000-89562000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:89561000-89562200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:89561200-89561600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:89561200-89561600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:89561200-89561600	Enhancers	Brain Angular Gyrus	brain
29	chr13:89561200-89561800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr13:89561200-89561800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:89561200-89561800	Enhancers	Adipose Nuclei	Adipose
32	chr13:89561200-89561800	Enhancers	Fetal Muscle Leg	muscle
33	chr13:89561200-89562000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:89561200-89562000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:89561200-89562000	Enhancers	HMEC	breast
36	chr13:89561200-89562000	Enhancers	NHEK	skin
37	chr13:89561200-89562600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr13:89571000-89571600	Enhancers	Dnd41	blood
39	chr13:89571400-89571600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr13:89571400-89573000	Enhancers	Primary B cells from peripheral blood	blood
41	chr13:89571600-89572400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr13:89571600-89572400	Flanking Active TSS	Dnd41	blood
43	chr13:89571600-89572400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr13:89571600-89572800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:89571600-89573200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:89571800-89572400	Enhancers	Primary B cells from cord blood	blood
47	chr13:89571800-89572400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr13:89571800-89572600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr13:89571800-89573000	Enhancers	Primary hematopoietic stem cells	blood
50	chr13:89571800-89573000	Enhancers	Primary T helper cells fromperipheralblood	blood

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