Variant report

Variant	esv3396494
Chromosome Location	chr13:87358000-87398086
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	CEBPB	chr13:87395881-87396169	HepG2	liver:	n/a	chr13:87396008-87396019
2	CEBPB	chr13:87395927-87396145	H1-hESC	embryonic stem cell:	n/a	chr13:87396008-87396019
3	CEBPB	chr13:87381487-87381725	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr13:87377500-87377650	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr13:87394100-87394250	AG09319	gingival:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
6	CTCF	chr13:87377345-87377645	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr13:87377500-87377650	HepG2	liver:	n/a	n/a
8	CTCF	chr13:87394120-87394270	AG04450	lung:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
9	CTCF	chr13:87394040-87394190	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr13:87394140-87394290	HRPEpiC	eye:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
11	CTCF	chr13:87394100-87394250	RPTEC	kidney:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
12	CTCF	chr13:87394060-87394210	HRE	kidney:	n/a	n/a
13	CTCF	chr13:87394184-87394266	Medullo	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
14	CTCF	chr13:87377520-87377670	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr13:87377459-87377669	Medullo	brain:	n/a	n/a
16	CTCF	chr13:87394100-87394250	HCPEpiC	choroid plexus:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
17	CTCF	chr13:87394160-87394310	HCPEpiC	choroid plexus:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
18	CTCF	chr13:87394100-87394250	AG04450	lung:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
19	CTCF	chr13:87394080-87394230	HRPEpiC	eye:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
20	CTCF	chr13:87394080-87394230	Caco-2	colon:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
21	CTCF	chr13:87394200-87394350	WERI-Rb-1	eye:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
22	CTCF	chr13:87377460-87377610	HCT-116	colon:	n/a	n/a
23	CTCF	chr13:87394066-87394259	SK-N-SH_RA	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
24	CTCF	chr13:87377409-87377730	GM12878	blood:	n/a	n/a
25	CTCF	chr13:87394178-87394246	HepG2	liver:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
26	CTCF	chr13:87393520-87393670	HA-sp	spinal cord:	n/a	n/a
27	CTCF	chr13:87377459-87377625	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr13:87383701-87383721	MCF-7	breast:	n/a	n/a
29	CTCF	chr13:87383665-87383750	MCF-7	breast:	n/a	n/a
30	CTCF	chr13:87394280-87394430	HAc	cerebellar:	n/a	n/a
31	CTCF	chr13:87394160-87394310	HepG2	liver:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
32	CTCF	chr13:87394120-87394270	BE2_C	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
33	CTCF	chr13:87377358-87377761	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr13:87377540-87377690	BE2_C	brain:	n/a	n/a
35	CTCF	chr13:87394120-87394270	MCF-7	breast:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
36	CTCF	chr13:87377460-87377610	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr13:87377540-87377690	HPF	lung:	n/a	n/a
38	CTCF	chr13:87377480-87377630	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr13:87394180-87394330	SK-N-SH_RA	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
40	CTCF	chr13:87377500-87377650	GM12866	blood:	n/a	n/a
41	CTCF	chr13:87394100-87394250	BE2_C	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
42	CTCF	chr13:87377460-87377610	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr13:87394140-87394290	HMF	breast:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
44	CTCF	chr13:87394160-87394310	HCT-116	colon:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
45	CTCF	chr13:87394080-87394230	HBMEC	blood vessel:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
46	CTCF	chr13:87377500-87377650	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr13:87377459-87377648	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr13:87377440-87377590	HMF	breast:	n/a	n/a
49	CTCF	chr13:87383694-87383698	MCF-7	breast:	n/a	n/a
50	CTCF	chr13:87377480-87377630	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:87315449..87317669-chr13:87358524..87360044,2	K562	blood:
2	chr13:87219118..87219726-chr13:87393723..87394529,2	MCF-7	breast:
3	chr13:87219074..87220049-chr13:87393792..87394360,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-19	chr13:87377755-87378308	NONHSAT034580

Variant related genes	Relation type
TXNL1P1	TF binding region

Extended variants
information (count: 181 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs34971941	chr13:87363238-87363239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546478289	chr13:87363265-87363266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1539644	chr13:87363316-87363317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569279365	chr13:87363318-87363319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142124323	chr13:87363351-87363352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556640860	chr13:87363355-87363356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568850669	chr13:87363358-87363359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4514536	chr13:87363434-87363435	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7333527	chr13:87363476-87363477	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs151185994	chr13:87363489-87363490	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540877557	chr13:87363492-87363493	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559198753	chr13:87363508-87363509	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577426304	chr13:87363509-87363510	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544905726	chr13:87363516-87363517	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61129218	chr13:87363520-87363521	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562715516	chr13:87363554-87363555	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374282937	chr13:87363608-87363609	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7323778	chr13:87363634-87363635	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558729746	chr13:87363650-87363651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11354504	chr13:87363651-87363652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201410225	chr13:87363652-87363653	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572982972	chr13:87363663-87363664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528265129	chr13:87363664-87363665	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140303574	chr13:87363721-87363722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145140918	chr13:87363728-87363729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566494459	chr13:87363737-87363738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7328167	chr13:87363742-87363743	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537647701	chr13:87363761-87363762	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150363465	chr13:87363764-87363765	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs556296308	chr13:87366070-87366071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372855627	chr13:87366082-87366083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574714274	chr13:87366092-87366093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34016025	chr13:87366093-87366094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542132132	chr13:87366115-87366116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573077858	chr13:87366141-87366142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527280998	chr13:87366216-87366217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188254423	chr13:87366219-87366220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532108558	chr13:87366220-87366221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181020515	chr13:87366315-87366316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531399119	chr13:87366323-87366324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549630827	chr13:87366342-87366343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568292679	chr13:87366398-87366399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75324847	chr13:87366407-87366408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75275840	chr13:87366465-87366466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566078051	chr13:87366556-87366557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539754605	chr13:87366558-87366559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150677964	chr13:87366574-87366575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569972153	chr13:87366576-87366577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537531234	chr13:87366589-87366590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555934637	chr13:87366590-87366591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87363200-87363600	Enhancers	Fetal Brain Female	brain
2	chr13:87363400-87363800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr13:87366000-87368200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:87374200-87375000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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