Variant report

Variant	esv3436655
Chromosome Location	chr13:50462077-50472044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:50467799-50468142	HepG2	liver:	n/a	n/a
2	BATF	chr13:50465696-50465986	GM12878	blood:	n/a	chr13:50465875-50465886
3	BATF	chr13:50465648-50465989	GM12878	blood:	n/a	chr13:50465875-50465886
4	BHLHE40	chr13:50467780-50468103	HepG2	liver:	n/a	n/a
5	CEBPB	chr13:50467835-50468054	HepG2	liver:	n/a	n/a
6	CEBPB	chr13:50467765-50468180	HepG2	liver:	n/a	n/a
7	CEBPB	chr13:50467745-50468119	HepG2	liver:	n/a	n/a
8	CEBPB	chr13:50467745-50468040	HepG2	liver:	n/a	n/a
9	CTCF	chr13:50465357-50465390	Kidney_OC	kidney:	n/a	n/a
10	EP300	chr13:50467904-50468115	HepG2	liver:	n/a	n/a
11	FOXA1	chr13:50467724-50468074	HepG2	liver:	n/a	n/a
12	FOXA1	chr13:50467765-50468094	HepG2	liver:	n/a	n/a
13	FOXA1	chr13:50467708-50468193	HepG2	liver:	n/a	n/a
14	FOXA1	chr13:50467694-50468218	HepG2	liver:	n/a	n/a
15	FOXA2	chr13:50467839-50468070	HepG2	liver:	n/a	n/a
16	GATA3	chr13:50467027-50467562	MCF-7	breast:	n/a	n/a
17	HDAC2	chr13:50467775-50468145	HepG2	liver:	n/a	n/a
18	HNF4A	chr13:50467777-50467997	HepG2	liver:	n/a	n/a
19	HNF4A	chr13:50467780-50468069	HepG2	liver:	n/a	n/a
20	HNF4G	chr13:50467788-50468020	HepG2	liver:	n/a	n/a
21	MAFK	chr13:50468703-50468808	HepG2	liver:	n/a	n/a
22	MAFK	chr13:50468706-50468851	HepG2	liver:	n/a	n/a
23	MAX	chr13:50467817-50468106	HepG2	liver:	n/a	n/a
24	MAX	chr13:50468636-50468898	NB4	blood:	n/a	chr13:50468735-50468745
25	MAZ	chr13:50467837-50468172	HepG2	liver:	n/a	n/a
26	MXI1	chr13:50467844-50468105	HepG2	liver:	n/a	n/a
27	POLR2A	chr13:50464747-50464782	Gliobla	brain:	n/a	n/a
28	POLR2A	chr13:50464632-50464749	MCF-7	breast:	n/a	n/a
29	REST	chr13:50467792-50468033	HepG2	liver:	n/a	n/a
30	RXRA	chr13:50467733-50468150	HepG2	liver:	n/a	n/a
31	SETDB1	chr13:50462766-50463040	U2OS	brain:	n/a	n/a
32	TBP	chr13:50464720-50464745	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50463057-50463107	PFSK-1	brain:	n/a
2	chr13:50463057-50463107	AG04450	lung:	fetal
3	chr13:50463057-50463107	SK-N-SH	brain:	n/a
4	chr13:50463057-50463107	PrEC	prostate:	n/a
5	chr13:50464614-50464664	AG10803	skin:	n/a
6	chr13:50464614-50464664	AG04449	skin:	fetal
7	chr13:50463057-50463107	HCM	heart:	n/a
8	chr13:50463192-50463242	HCPEpiC	choroid plexus:	n/a
9	chr13:50463192-50463242	BJ	skin:	n/a
10	chr13:50464614-50464664	GM12891	blood:	n/a
11	chr13:50463192-50463242	CMK	blood:	n/a
12	chr13:50463057-50463107	AoSMC	blood vessel:	n/a
13	chr13:50464614-50464664	GM06990	blood:	n/a
14	chr13:50463057-50463107	Jurkat	blood:	n/a
15	chr13:50463192-50463242	AG10803	skin:	n/a
16	chr13:50463057-50463107	K562	blood:	n/a
17	chr13:50463057-50463107	NH-A	brain:	n/a
18	chr13:50463192-50463242	HNPCEpiC	eye:	n/a
19	chr13:50463057-50463107	CMK	blood:	n/a
20	chr13:50464614-50464664	SK-N-MC	brain:	n/a
21	chr13:50463057-50463107	SAEC	small airway:	n/a
22	chr13:50463057-50463107	HAEpiC	amniotic membrane:	n/a
23	chr13:50463057-50463107	ProgFib	skin:	n/a
24	chr13:50463192-50463242	MCF10A-Er-Src	breast:	n/a
25	chr13:50463057-50463107	NT2-D1	testis:	n/a
26	chr13:50463192-50463242	IMR90	lung:	fetal
27	chr13:50463057-50463107	AG09309	skin:	n/a
28	chr13:50464614-50464664	HepG2	liver:	n/a
29	chr13:50463057-50463107	SK-N-SH_RA	brain:	n/a
30	chr13:50463057-50463107	HCPEpiC	choroid plexus:	n/a
31	chr13:50463192-50463242	ECC-1	luminal epithelium:	n/a
32	chr13:50463057-50463107	Hela-S3	cervix:	n/a
33	chr13:50463057-50463107	GM12892	blood:	n/a
34	chr13:50463057-50463107	HNPCEpiC	eye:	n/a
35	chr13:50464614-50464664	HCPEpiC	choroid plexus:	n/a
36	chr13:50463192-50463242	NH-A	brain:	n/a
37	chr13:50463192-50463242	LNCaP	prostate:	n/a
38	chr13:50464614-50464664	HRCEpiC	kidney:	n/a
39	chr13:50464614-50464664	NB4	blood:	n/a
40	chr13:50463192-50463242	GM12892	blood:	n/a
41	chr13:50463192-50463242	NHDF-neo	bronchial:	n/a
42	chr13:50463057-50463107	PANC-1	pancreas:	n/a
43	chr13:50463057-50463107	ECC-1	luminal epithelium:	n/a
44	chr13:50463192-50463242	GM12891	blood:	n/a
45	chr13:50464614-50464664	LNCaP	prostate:	n/a
46	chr13:50464614-50464664	PFSK-1	brain:	n/a
47	chr13:50464614-50464664	HAEpiC	amniotic membrane:	n/a
48	chr13:50463192-50463242	NB4	blood:	n/a
49	chr13:50463192-50463242	AoSMC	blood vessel:	n/a
50	chr13:50464614-50464664	SAEC	small airway:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50464748..50466249-chr14:39735670..39738225,2	MCF-7	breast:
2	chr13:50464730..50466250-chr14:39735376..39737030,2	MCF-7	breast:
3	chr13:50464224..50465231-chr14:39736139..39736859,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM13-8	chr13:50464545-50467516	NR_003268

No data

Variant related genes	Relation type
CTAGE10P	TF binding region
RNY4P30	TF binding region
CTAGE10P	CpG island
RNY4P30	CpG island
ENSG00000258940	chromatin interactions
ENSG00000258941	chromatin interactions
ENSG00000150527	chromatin interactions

Extended variants
information (count: 345 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34894410	chr13:50462790-50462791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536603280	chr13:50462796-50462797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs35082296	chr13:50462803-50462804	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558246611	chr13:50462843-50462844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs570184165	chr13:50462902-50462903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs34643061	chr13:50462960-50462961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs73194491	chr13:50463057-50463058	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs56195721	chr13:50463192-50463193	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs543809066	chr13:50463216-50463217	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs565403990	chr13:50463217-50463218	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs577403553	chr13:50463227-50463228	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs186989704	chr13:50463237-50463238	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs192744577	chr13:50463239-50463240	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs551802599	chr13:50464259-50464260	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182078440	chr13:50464388-50464389	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs12585295	chr13:50464442-50464443	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs571804304	chr13:50464485-50464486	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377730948	chr13:50464495-50464496	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568032283	chr13:50464551-50464552	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs9316480	chr13:50464552-50464553	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548475879	chr13:50464587-50464588	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs570370978	chr13:50464598-50464599	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs12876820	chr13:50464624-50464625	Enhancers	CpG island Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559249666	chr13:50464683-50464684	Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs34893433	chr13:50464697-50464698	Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs61747168	chr13:50464734-50464735	Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs61747167	chr13:50464739-50464740	Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553455756	chr13:50464759-50464760	Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs145782214	chr13:50464849-50464850	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs542041841	chr13:50464895-50464896	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs556874042	chr13:50464920-50464921	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs370587877	chr13:50464931-50464932	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs141264719	chr13:50464934-50464935	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs7337071	chr13:50464944-50464945	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs575048246	chr13:50464962-50464963	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs185530034	chr13:50464969-50464970	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs564004321	chr13:50464972-50464973	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs189371926	chr13:50464984-50464985	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs539823753	chr13:50464994-50464995	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs561853552	chr13:50464998-50464999	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs528969104	chr13:50465013-50465014	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs576746312	chr13:50465151-50465152	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs371942570	chr13:50465179-50465180	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs548813917	chr13:50465207-50465208	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs570160867	chr13:50465219-50465220	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs531089230	chr13:50465226-50465227	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs552921859	chr13:50465260-50465261	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs571133738	chr13:50465273-50465274	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs535047062	chr13:50465297-50465298	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs553076744	chr13:50465298-50465299	Inactive region	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50464600-50464800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50467400-50468600	Enhancers	Liver	Liver
3	chr13:50467600-50468200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:50467600-50468400	Enhancers	HepG2	liver
5	chr13:50467800-50468200	Enhancers	Placenta	Placenta
6	chr13:50468200-50469600	Weak transcription	Placenta	Placenta
7	chr13:50468400-50468800	Weak transcription	HepG2	liver
8	chr13:50468600-50486000	Weak transcription	Liver	Liver
9	chr13:50468800-50469000	Enhancers	HepG2	liver
10	chr13:50469000-50470000	Weak transcription	HepG2	liver
11	chr13:50469600-50470400	Enhancers	Placenta	Placenta
12	chr13:50470000-50470400	Enhancers	HepG2	liver
13	chr13:50470400-50472200	Weak transcription	HepG2	liver

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