Variant report

Variant	nsv977269
Chromosome Location	chr13:93125018-93132725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr13:93126151-93126231	K562	blood:	n/a	n/a
2	ATF1	chr13:93131223-93131513	K562	blood:	n/a	n/a
3	ATF1	chr13:93129988-93130156	K562	blood:	n/a	n/a
4	CTCF	chr13:93129958-93130053	LNCaP	prostate:	n/a	n/a
5	CTCF	chr13:93129940-93130090	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr13:93130833-93130859	GM10248	blood:	n/a	n/a
7	CTCF	chr13:93129560-93129710	BE2_C	brain:	n/a	n/a
8	CTCF	chr13:93129987-93130056	LNCaP	prostate:	n/a	n/a
9	EP300	chr13:93126043-93126213	K562	blood:	n/a	n/a
10	EP300	chr13:93125025-93125188	K562	blood:	n/a	chr13:93125066-93125073
11	FOS	chr13:93131238-93131508	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr13:93131226-93131426	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr13:93131311-93131502	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr13:93125943-93126745	HepG2	liver:	n/a	n/a
15	FOXA1	chr13:93132315-93132722	HepG2	liver:	n/a	chr13:93132547-93132562
16	IRF1	chr13:93126354-93126363	K562	blood:	n/a	n/a
17	IRF1	chr13:93125523-93125528	K562	blood:	n/a	n/a
18	IRF1	chr13:93127123-93127230	K562	blood:	n/a	n/a
19	KAP1	chr13:93126060-93126365	K562	blood:	n/a	n/a
20	MXI1	chr13:93131283-93131463	GM12878	blood:	n/a	n/a
21	MXI1	chr13:93126453-93126456	K562	blood:	n/a	n/a
22	POLR2A	chr13:93126661-93126819	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr13:93130588-93130684	MCF10A-Er-Src	breast:	n/a	n/a
24	RFX5	chr13:93125855-93125931	K562	blood:	n/a	n/a
25	RXRA	chr13:93125991-93126286	HepG2	liver:	n/a	chr13:93126133-93126149
26	RXRA	chr13:93126362-93126645	HepG2	liver:	n/a	n/a
27	SP1	chr13:93125989-93126716	HepG2	liver:	n/a	n/a
28	STAT3	chr13:93131213-93131296	MCF10A-Er-Src	breast:	n/a	n/a
29	TBL1XR1	chr13:93130827-93131005	K562	blood:	n/a	n/a
30	TBP	chr13:93130044-93130223	K562	blood:	n/a	n/a
31	TCF12	chr13:93126365-93126583	HepG2	liver:	n/a	n/a
32	UBTF	chr13:93129551-93129677	K562	blood:	n/a	n/a
33	ZBTB33	chr13:93127737-93127931	HepG2	liver:	n/a	n/a
34	ZC3H11A	chr13:93125135-93125417	K562	blood:	n/a	n/a
35	ZNF143	chr13:93131975-93132207	K562	blood:	n/a	n/a
36	ZNF143	chr13:93126538-93126670	K562	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:93119313..93121342-chr13:93125722..93128619,2	K562	blood:

No data

Variant related genes	Relation type
GPC5-IT1	TF binding region

Extended variants
information (count: 175 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369490246	chr13:93125042-93125043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376721998	chr13:93125085-93125086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541410715	chr13:93125097-93125098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146363333	chr13:93125107-93125108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535424717	chr13:93125129-93125130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375697274	chr13:93125183-93125184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541228669	chr13:93125189-93125190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535203965	chr13:93125216-93125217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139725562	chr13:93125237-93125238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188037715	chr13:93125274-93125275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9589552	chr13:93125296-93125297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570147354	chr13:93125309-93125310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572046113	chr13:93125332-93125333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540962419	chr13:93125342-93125343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9561062	chr13:93125367-93125368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373565918	chr13:93125368-93125369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566367369	chr13:93125387-93125388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9589553	chr13:93125389-93125390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558419570	chr13:93125392-93125393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571558037	chr13:93125510-93125511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191384011	chr13:93125512-93125513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555876803	chr13:93125540-93125541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184528827	chr13:93125551-93125552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535082803	chr13:93125578-93125579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9589554	chr13:93125579-93125580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571994972	chr13:93125580-93125581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541011483	chr13:93125582-93125583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74107285	chr13:93125583-93125584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs61973636	chr13:93125591-93125592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189459379	chr13:93125603-93125604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142091622	chr13:93125628-93125629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529360714	chr13:93125666-93125667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549368636	chr13:93125715-93125716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114282369	chr13:93125767-93125768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75084475	chr13:93125790-93125791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529383190	chr13:93125836-93125837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551818061	chr13:93125849-93125850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571596686	chr13:93125886-93125887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537265284	chr13:93125901-93125902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61973637	chr13:93125903-93125904	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564113162	chr13:93125917-93125918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9589555	chr13:93125985-93125986	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555434550	chr13:93125995-93125996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571971196	chr13:93126028-93126029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534594962	chr13:93126033-93126034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558098681	chr13:93126072-93126073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577977365	chr13:93126081-93126082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543645848	chr13:93126088-93126089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563434062	chr13:93126139-93126140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573871644	chr13:93126187-93126188	Enhancers Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93124800-93125200	Enhancers	Fetal Intestine Large	intestine
2	chr13:93125200-93125400	Weak transcription	Fetal Intestine Large	intestine
3	chr13:93125400-93125800	Enhancers	Fetal Intestine Large	intestine
4	chr13:93125600-93126400	Enhancers	Duodenum Mucosa	Duodenum
5	chr13:93125800-93126600	Weak transcription	Fetal Intestine Large	intestine
6	chr13:93126600-93127400	Enhancers	Fetal Intestine Large	intestine
7	chr13:93129400-93129800	Enhancers	NHEK	skin
8	chr13:93129400-93130200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:93129600-93130400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:93129600-93130400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr13:93131800-93133400	Enhancers	Fetal Intestine Small	intestine
12	chr13:93132200-93132400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr13:93132200-93133400	Enhancers	Fetal Intestine Large	intestine

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