Variant report

Variant	esv3323042
Chromosome Location	chr13:87374000-87398086
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	chr13:87381487-87381725	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr13:87395927-87396145	H1-hESC	embryonic stem cell:	n/a	chr13:87396008-87396019
4	CTCF	chr13:87394160-87394310	HCT-116	colon:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
5	CTCF	chr13:87377480-87377630	BE2_C	brain:	n/a	n/a
6	CTCF	chr13:87377563-87377571	A549	lung:	n/a	n/a
7	CTCF	chr13:87377409-87377730	GM12878	blood:	n/a	n/a
8	CTCF	chr13:87394046-87394303	IMR90	lung:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
9	CTCF	chr13:87383701-87383721	MCF-7	breast:	n/a	n/a
10	CTCF	chr13:87377500-87377650	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr13:87377345-87377645	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr13:87377480-87377630	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr13:87394180-87394330	SK-N-SH_RA	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
14	CTCF	chr13:87377459-87377625	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr13:87377500-87377650	HepG2	liver:	n/a	n/a
16	CTCF	chr13:87394100-87394250	BE2_C	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
17	CTCF	chr13:87394120-87394270	HAc	cerebellar:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
18	CTCF	chr13:87377480-87377630	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr13:87377493-87377653	Gliobla	brain:	n/a	n/a
20	CTCF	chr13:87394160-87394310	HepG2	liver:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
21	CTCF	chr13:87394140-87394290	HMF	breast:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
22	CTCF	chr13:87394060-87394210	HRE	kidney:	n/a	n/a
23	CTCF	chr13:87394100-87394250	AG09319	gingival:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
24	CTCF	chr13:87383665-87383750	MCF-7	breast:	n/a	n/a
25	CTCF	chr13:87383600-87383750	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr13:87377500-87377650	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr13:87377460-87377610	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr13:87394172-87394292	MCF-7	breast:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
29	CTCF	chr13:87377531-87377611	MCF-7	breast:	n/a	n/a
30	CTCF	chr13:87377480-87377630	AG04450	lung:	n/a	n/a
31	CTCF	chr13:87394160-87394310	HCPEpiC	choroid plexus:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
32	CTCF	chr13:87394180-87394288	SK-N-SH_RA	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
33	CTCF	chr13:87394080-87394230	Caco-2	colon:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
34	CTCF	chr13:87394100-87394250	Caco-2	colon:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
35	CTCF	chr13:87377358-87377761	SK-N-SH	brain:	n/a	n/a
36	CTCF	chr13:87377440-87377590	HEK293	kidney:	n/a	n/a
37	CTCF	chr13:87377440-87377590	HMF	breast:	n/a	n/a
38	CTCF	chr13:87377452-87377579	HepG2	liver:	n/a	n/a
39	CTCF	chr13:87377500-87377650	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr13:87394100-87394250	NB4	blood:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
41	CTCF	chr13:87383694-87383698	MCF-7	breast:	n/a	n/a
42	CTCF	chr13:87377549-87377600	GM12891	blood:	n/a	n/a
43	CTCF	chr13:87394178-87394246	HepG2	liver:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
44	CTCF	chr13:87394140-87394290	HRPEpiC	eye:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
45	CTCF	chr13:87377460-87377610	HCT-116	colon:	n/a	n/a
46	CTCF	chr13:87377459-87377648	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr13:87377540-87377690	BE2_C	brain:	n/a	n/a
48	CTCF	chr13:87394120-87394270	MCF-7	breast:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
49	CTCF	chr13:87394066-87394259	SK-N-SH_RA	brain:	n/a	chr13:87394206-87394222 chr13:87394200-87394221
50	CTCF	chr13:87377483-87377625	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:87219118..87219726-chr13:87393723..87394529,2	MCF-7	breast:
2	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: 63 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370725628	chr13:87374205-87374206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12584962	chr13:87374261-87374262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533432239	chr13:87374286-87374287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9515843	chr13:87374306-87374307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368410595	chr13:87374368-87374369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1592332	chr13:87374378-87374379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566782396	chr13:87374391-87374392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187577040	chr13:87374395-87374396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549498705	chr13:87374498-87374499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567713111	chr13:87374523-87374524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146527150	chr13:87374566-87374567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528593481	chr13:87374577-87374578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192791804	chr13:87374598-87374599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565887846	chr13:87374610-87374611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184638959	chr13:87374639-87374640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541420370	chr13:87374663-87374664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557663517	chr13:87374674-87374675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569299570	chr13:87374720-87374721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534184248	chr13:87374744-87374745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554952576	chr13:87374799-87374800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34579252	chr13:87374823-87374824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143435140	chr13:87374847-87374848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146755686	chr13:87374908-87374909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558595000	chr13:87374955-87374956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148913965	chr13:87374965-87374966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570699408	chr13:87374968-87374969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545709433	chr13:87374994-87374995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369808285	chr13:87377186-87377187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs556285039	chr13:87377190-87377191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs574593087	chr13:87377196-87377197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201461818	chr13:87377212-87377213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs552499570	chr13:87377239-87377240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542764631	chr13:87377250-87377251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs3015520	chr13:87377276-87377277	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528361931	chr13:87377278-87377279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs540188432	chr13:87377309-87377310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs564860869	chr13:87377344-87377345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs532187854	chr13:87377376-87377377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs376922655	chr13:87377402-87377403	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs568927753	chr13:87377434-87377435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs572533996	chr13:87377451-87377452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs116386902	chr13:87377472-87377473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs2996413	chr13:87377473-87377474	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566981445	chr13:87377481-87377482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs117240841	chr13:87377525-87377526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533480330	chr13:87377590-87377591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550095742	chr13:87377628-87377629	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs180980361	chr13:87377639-87377640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs570507137	chr13:87377667-87377668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs564643463	chr13:87377699-87377700	Inactive region	TF binding region	1 gene(s)	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87374200-87375000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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