Variant report

Variant	nsv1038982
Chromosome Location	chr13:90199563-90345091
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	chr13:90326568-90326595	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr13:90332823-90333002	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr13:90327849-90327887	K562	blood:	n/a	n/a
4	CEBPB	chr13:90216095-90216295	HepG2	liver:	n/a	chr13:90216249-90216262 chr13:90216250-90216261
5	CEBPB	chr13:90280891-90280929	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr13:90339316-90339711	IMR90	lung:	n/a	chr13:90339523-90339532 chr13:90339521-90339534 chr13:90339523-90339532 chr13:90339365-90339376 chr13:90339523-90339532
7	CEBPB	chr13:90209916-90210116	HepG2	liver:	n/a	n/a
8	CEBPB	chr13:90280748-90280785	HepG2	liver:	n/a	n/a
9	CEBPB	chr13:90339367-90339666	K562	blood:	n/a	chr13:90339523-90339532 chr13:90339521-90339534 chr13:90339523-90339532 chr13:90339523-90339532
10	CEBPB	chr13:90339221-90339715	HepG2	liver:	n/a	chr13:90339523-90339532 chr13:90339521-90339534 chr13:90339523-90339532 chr13:90339365-90339376 chr13:90339523-90339532
11	CEBPB	chr13:90224834-90224951	HepG2	liver:	n/a	n/a
12	CEBPB	chr13:90337035-90337232	HepG2	liver:	n/a	chr13:90337101-90337112
13	CEBPB	chr13:90339309-90339665	ECC-1	luminal epithelium:	n/a	chr13:90339523-90339532 chr13:90339521-90339534 chr13:90339523-90339532 chr13:90339365-90339376 chr13:90339523-90339532
14	CEBPB	chr13:90339333-90339712	Hela-S3	cervix:	n/a	chr13:90339523-90339532 chr13:90339521-90339534 chr13:90339523-90339532 chr13:90339365-90339376 chr13:90339523-90339532
15	CEBPB	chr13:90339279-90339713	A549	lung:	n/a	chr13:90339523-90339532 chr13:90339521-90339534 chr13:90339523-90339532 chr13:90339365-90339376 chr13:90339523-90339532
16	CEBPB	chr13:90339336-90339708	H1-hESC	embryonic stem cell:	n/a	chr13:90339523-90339532 chr13:90339521-90339534 chr13:90339523-90339532 chr13:90339365-90339376 chr13:90339523-90339532
17	CEBPB	chr13:90242215-90242403	HepG2	liver:	n/a	chr13:90242323-90242334
18	CEBPB	chr13:90336981-90337214	Hela-S3	cervix:	n/a	chr13:90337101-90337112
19	CEBPB	chr13:90336906-90337254	ECC-1	luminal epithelium:	n/a	chr13:90337101-90337112
20	CEBPB	chr13:90336968-90337300	ECC-1	luminal epithelium:	n/a	chr13:90337101-90337112
21	CEBPB	chr13:90339320-90339808	A549	lung:	n/a	chr13:90339523-90339532 chr13:90339521-90339534 chr13:90339523-90339532 chr13:90339365-90339376 chr13:90339523-90339532
22	CTCF	chr13:90313180-90313330	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr13:90229680-90229830	HMF	breast:	n/a	chr13:90229721-90229739 chr13:90229724-90229733 chr13:90229723-90229744
24	CTCF	chr13:90313140-90313290	HMEC	breast:	n/a	n/a
25	CTCF	chr13:90229520-90229670	Caco-2	colon:	n/a	n/a
26	CTCF	chr13:90229600-90229750	RPTEC	kidney:	n/a	chr13:90229721-90229739 chr13:90229724-90229733 chr13:90229723-90229744
27	CTCF	chr13:90240553-90240572	LNCaP	prostate:	n/a	n/a
28	CTCF	chr13:90313120-90313270	SAEC	small airway:	n/a	n/a
29	CTCF	chr13:90229500-90229650	RPTEC	kidney:	n/a	n/a
30	CTCF	chr13:90230540-90230690	HMF	breast:	n/a	n/a
31	CTCF	chr13:90313160-90313310	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr13:90230674-90230787	Medullo	brain:	n/a	n/a
33	CTCF	chr13:90313200-90313350	RPTEC	kidney:	n/a	n/a
34	CTCF	chr13:90256358-90256431	Fibrobl	skin:	n/a	n/a
35	CTCF	chr13:90220680-90220770	LNCaP	prostate:	n/a	n/a
36	CTCF	chr13:90229740-90229890	RPTEC	kidney:	n/a	n/a
37	CTCF	chr13:90309905-90309932	GM10248	blood:	n/a	n/a
38	CTCF	chr13:90230682-90230770	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr13:90230711-90230760	LNCaP	prostate:	n/a	n/a
40	CTCF	chr13:90289242-90289259	IMR90	lung:	n/a	n/a
41	CTCF	chr13:90229640-90229790	HCPEpiC	choroid plexus:	n/a	chr13:90229721-90229739 chr13:90229724-90229733 chr13:90229723-90229744
42	CTCF	chr13:90229900-90230050	SAEC	small airway:	n/a	n/a
43	CTCF	chr13:90313171-90313273	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr13:90248814-90248848	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr13:90229700-90229850	HMF	breast:	n/a	chr13:90229721-90229739 chr13:90229724-90229733 chr13:90229723-90229744
46	CTCF	chr13:90229620-90229770	HPAF	blood vessel:	n/a	chr13:90229721-90229739 chr13:90229724-90229733 chr13:90229723-90229744
47	CTCF	chr13:90229560-90229710	AG04450	lung:	n/a	n/a
48	CTCF	chr13:90313220-90313370	HMEC	breast:	n/a	n/a
49	CTCF	chr13:90313060-90313210	RPTEC	kidney:	n/a	n/a
50	CTCF	chr13:90229480-90229630	HPAF	blood vessel:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-26	chr13:90341209-90342696	NONHSAT034635
2	lnc-SLITRK6-12	chr13:90204359-90204643	XLOC_010686
3	lnc-GPC5-4	chr13:90204359-90204606	XLOC_010468
4	lnc-SLITRK6-12	chr13:90203455-90203544	XLOC_010686
5	lnc-SLITRK6-12	chr13:90205985-90206058	XLOC_010686
6	lnc-GPC5-4	chr13:90203039-90203531	XLOC_010468
7	lnc-SLITRK6-12	chr13:90200945-90201465	XLOC_010686
8	lnc-SLITRK6-12	chr13:90201048-90201465	NONHSAT034632
9	lnc-SLITRK6-12	chr13:90203455-90203544	NONHSAT034632
10	lnc-SLITRK6-12	chr13:90203487-90203531	XLOC_010686
11	lnc-GPC5-4	chr13:90203487-90203531	ENSG00000271395.1
12	lnc-SLITRK6-12	chr13:90216586-90216667	NONHSAT034632
13	lnc-SLITRK6-12	chr13:90205985-90206049	NONHSAT034632
14	lnc-GPC5-4	chr13:90204359-90204643	ENSG00000271395.1
15	lnc-SLITRK6-26	chr13:90343642-90343795	NONHSAT034635

Variant related genes	Relation type
LINC00353	TF binding region
ENSG00000271395	TF binding region
HSP90B1	miRNA target sites
MBNL1	miRNA target sites

Extended variants
information (count: 2441 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2441 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11617299	chr13:90199563-90199564	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572371330	chr13:90199575-90199576	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs187972921	chr13:90199600-90199601	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs371475740	chr13:90199601-90199602	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs564319885	chr13:90199703-90199704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs150249575	chr13:90199707-90199708	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs138870220	chr13:90199717-90199718	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113645749	chr13:90199789-90199790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17548734	chr13:90199845-90199846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530400146	chr13:90199869-90199870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370937867	chr13:90199873-90199874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528901858	chr13:90199898-90199899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547043110	chr13:90199924-90199925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192348459	chr13:90199941-90199942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61958289	chr13:90200005-90200006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551647048	chr13:90200014-90200015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9555914	chr13:90200025-90200026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149431853	chr13:90200085-90200086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550252321	chr13:90200111-90200112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202234973	chr13:90200113-90200114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535858699	chr13:90200116-90200117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528050625	chr13:90200135-90200136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145920840	chr13:90200179-90200180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117495933	chr13:90200215-90200216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561124900	chr13:90200228-90200229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557972691	chr13:90200253-90200254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184559392	chr13:90200269-90200270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571293296	chr13:90200278-90200279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561834921	chr13:90200332-90200333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530168965	chr13:90200353-90200354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573636913	chr13:90200401-90200402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376851531	chr13:90200422-90200423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9560386	chr13:90200429-90200430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559386930	chr13:90200452-90200453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141560831	chr13:90200474-90200475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538981416	chr13:90200478-90200479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146173952	chr13:90200535-90200536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563528343	chr13:90200556-90200557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530754958	chr13:90200562-90200563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550345987	chr13:90200619-90200620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571538480	chr13:90200721-90200722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148433055	chr13:90200730-90200731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141660007	chr13:90200773-90200774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567165088	chr13:90200817-90200818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375171698	chr13:90200818-90200819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565729819	chr13:90200849-90200850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188340021	chr13:90200868-90200869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539409664	chr13:90200881-90200882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558050070	chr13:90200900-90200901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144673147	chr13:90200903-90200904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90193800-90202800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:90202600-90203600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:90202800-90204000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:90202800-90204000	Enhancers	NHEK	skin
5	chr13:90202800-90204400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:90203200-90204400	Enhancers	HUVEC	blood vessel
7	chr13:90203200-90205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:90203800-90204400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:90203800-90204600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:90205200-90208000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:90207000-90207400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:90207400-90211400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:90211400-90212000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:90216800-90219200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:90216800-90219400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:90217400-90217800	Enhancers	Brain Anterior Caudate	brain
17	chr13:90217600-90218000	Enhancers	Brain Germinal Matrix	brain
18	chr13:90221600-90222000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:90222800-90223400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr13:90223000-90225000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:90236000-90236600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:90236200-90236600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr13:90236200-90236800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr13:90236200-90236800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr13:90236200-90236800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr13:90236200-90236800	Enhancers	Fetal Lung	lung
27	chr13:90236200-90237000	Enhancers	Fetal Heart	heart
28	chr13:90236800-90237800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr13:90237800-90238400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:90238200-90238600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr13:90262600-90263000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:90262600-90263000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr13:90262800-90264200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:90262800-90264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:90266600-90267000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:90266600-90267000	Enhancers	HMEC	breast
37	chr13:90267000-90280200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:90279800-90280200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr13:90280200-90280400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:90296600-90298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:90298800-90300000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:90300000-90301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:90300400-90303800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:90306000-90306600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:90312000-90313400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr13:90312800-90313600	Enhancers	HMEC	breast
47	chr13:90313400-90314200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr13:90314200-90314400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr13:90316200-90316600	Enhancers	Gastric	stomach
50	chr13:90321200-90321600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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