Variant report

Variant	esv3354082
Chromosome Location	chr13:86542951-86546549
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	CTCF	chr13:86544940-86545090	AG09319	gingival:	n/a	chr13:86545043-86545064
2	CTCF	chr13:86545013-86545077	Pancreas_OC	pancreas:	n/a	chr13:86545043-86545064
3	CTCF	chr13:86544972-86545135	Medullo	brain:	n/a	chr13:86545043-86545064
4	CTCF	chr13:86544956-86545186	IMR90	lung:	n/a	chr13:86545043-86545064
5	CTCF	chr13:86545000-86545150	AG04450	lung:	n/a	chr13:86545043-86545064
6	CTCF	chr13:86544980-86545130	HRPEpiC	eye:	n/a	chr13:86545043-86545064
7	CTCF	chr13:86544958-86545137	LNCaP	prostate:	n/a	chr13:86545043-86545064
8	CTCF	chr13:86544960-86545110	HMF	breast:	n/a	chr13:86545043-86545064
9	CTCF	chr13:86544940-86545090	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
10	CTCF	chr13:86544982-86545086	HUVEC	blood vessel:	n/a	chr13:86545043-86545064
11	CTCF	chr13:86544960-86545110	HPF	lung:	n/a	chr13:86545043-86545064
12	CTCF	chr13:86544975-86545091	LNCaP	prostate:	n/a	chr13:86545043-86545064
13	CTCF	chr13:86545000-86545150	HCM	heart:	n/a	chr13:86545043-86545064
14	CTCF	chr13:86544980-86545130	HMEC	breast:	n/a	chr13:86545043-86545064
15	CTCF	chr13:86544993-86545126	Hela-S3	cervix:	n/a	chr13:86545043-86545064
16	CTCF	chr13:86544998-86545086	Lung_OC	lung:	n/a	chr13:86545043-86545064
17	CTCF	chr13:86544980-86545130	RPTEC	kidney:	n/a	chr13:86545043-86545064
18	CTCF	chr13:86544960-86545110	HCPEpiC	choroid plexus:	n/a	chr13:86545043-86545064
19	CTCF	chr13:86544960-86545110	HPAF	blood vessel:	n/a	chr13:86545043-86545064
20	CTCF	chr13:86545060-86545210	HMEC	breast:	n/a	n/a
21	CTCF	chr13:86544989-86545047	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
23	CTCF	chr13:86544980-86545130	HEEpiC	esophagus:	n/a	chr13:86545043-86545064
24	E2F4	chr13:86544900-86545286	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr13:86544168-86544284	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr13:86545472-86545977	T-47D	breast:	n/a	n/a
27	EP300	chr13:86545537-86545817	T-47D	breast:	n/a	n/a
28	FOXA1	chr13:86545618-86545862	T-47D	breast:	n/a	n/a
29	FOXA1	chr13:86545536-86545904	T-47D	breast:	n/a	n/a
30	GATA3	chr13:86545595-86545931	T-47D	breast:	n/a	chr13:86545692-86545699
31	GATA3	chr13:86545460-86546047	T-47D	breast:	n/a	chr13:86545692-86545699
32	JUND	chr13:86545540-86545885	T-47D	breast:	n/a	n/a
33	POLR2A	chr13:86543146-86543198	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr13:86545852-86545904	MCF10A-Er-Src	breast:	n/a	n/a
35	RAD21	chr13:86544906-86545155	H1-hESC	embryonic stem cell:	n/a	chr13:86545042-86545061
36	RAD21	chr13:86544887-86545269	Hela-S3	cervix:	n/a	chr13:86545042-86545061
37	RAD21	chr13:86544855-86545263	HCT-116	colon:	n/a	chr13:86545042-86545061
38	RAD21	chr13:86544926-86545303	ECC-1	luminal epithelium:	n/a	chr13:86545042-86545061
39	RAD21	chr13:86544912-86545217	A549	lung:	n/a	chr13:86545042-86545061
40	RAD21	chr13:86544942-86545218	ECC-1	luminal epithelium:	n/a	chr13:86545042-86545061
41	RAD21	chr13:86544946-86545172	SK-N-SH_RA	brain:	n/a	chr13:86545042-86545061
42	RAD21	chr13:86544934-86545235	H1-hESC	embryonic stem cell:	n/a	chr13:86545042-86545061
43	RAD21	chr13:86544920-86545228	SK-N-SH_RA	brain:	n/a	chr13:86545042-86545061
44	SMC3	chr13:86544908-86545222	Hela-S3	cervix:	n/a	n/a
45	TCF7L2	chr13:86545683-86545968	PANC-1	pancreas:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-27	chr13:86543134-86543668	NONHSAT034571

Variant related genes	Relation type
MOB1AP1	TF binding region

Extended variants
information (count: 134 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184032913	chr13:86543012-86543013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578079401	chr13:86543019-86543020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12876284	chr13:86543077-86543078	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564137745	chr13:86543176-86543177	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs188934146	chr13:86543192-86543193	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs12875762	chr13:86543281-86543282	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561666754	chr13:86543288-86543289	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs146739211	chr13:86543289-86543290	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs193029165	chr13:86543332-86543333	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs116103093	chr13:86543337-86543338	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs35031087	chr13:86543340-86543341	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs532953206	chr13:86543376-86543377	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs551473609	chr13:86543395-86543396	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs569846282	chr13:86543448-86543449	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs537122874	chr13:86543485-86543486	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs12875825	chr13:86543564-86543565	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12875981	chr13:86543579-86543580	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535335208	chr13:86543605-86543606	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs35340129	chr13:86543643-86543644	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375676598	chr13:86543659-86543660	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs578136556	chr13:86543771-86543772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189723001	chr13:86543790-86543791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111593521	chr13:86543792-86543793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144073383	chr13:86543837-86543838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146460396	chr13:86543841-86543842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557568688	chr13:86543861-86543862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150361097	chr13:86543883-86543884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35773713	chr13:86543884-86543885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568519731	chr13:86543926-86543927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191735032	chr13:86543939-86543940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576251662	chr13:86543970-86543971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543536567	chr13:86543981-86543982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140759353	chr13:86544006-86544007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528839304	chr13:86544020-86544021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150097120	chr13:86544025-86544026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145459380	chr13:86544072-86544073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149229125	chr13:86544076-86544077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551187224	chr13:86544105-86544106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184107601	chr13:86544144-86544145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575204844	chr13:86544167-86544168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530951559	chr13:86544178-86544179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549025834	chr13:86544220-86544221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567653110	chr13:86544236-86544237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188057399	chr13:86544309-86544310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546958958	chr13:86544311-86544312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571876779	chr13:86544321-86544322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531998479	chr13:86544332-86544333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181006859	chr13:86544340-86544341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557632036	chr13:86544367-86544368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111868951	chr13:86544398-86544399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Bipolar disorder	19114987	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
2	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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