Variant report

Variant	nsv512338
Chromosome Location	chr13:111587081-111589639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr13:111588933-111589065	K562	blood:	n/a	n/a
2	POLR2A	chr13:111589042-111589144	HUVEC	blood vessel:	n/a	n/a
3	YY1	chr13:111587300-111587642	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	chr13:111589040-111589090	MCF10A-Er-Src	breast:	n/a
2	chr13:111589153-111589203	HMEC	breast:	n/a
3	chr13:111589090-111589140	HepG2	liver:	n/a
4	chr13:111589040-111589090	AG04450	lung:	fetal
5	chr13:111589090-111589140	GM12878	blood:	n/a
6	chr13:111589153-111589203	Jurkat	blood:	n/a
7	chr13:111589153-111589203	MCF10A-Er-Src	breast:	n/a
8	chr13:111589153-111589203	CMK	blood:	n/a
9	chr13:111589153-111589203	GM12892	blood:	n/a
10	chr13:111589090-111589140	A549	lung:	n/a
11	chr13:111589040-111589090	HCT-116	colon:	n/a
12	chr13:111589040-111589090	HEEpiC	esophagus:	n/a
13	chr13:111589040-111589090	AG09319	gingival:	n/a
14	chr13:111589153-111589203	Hepatocyte	liver:	n/a
15	chr13:111589153-111589203	U87	brain:	n/a
16	chr13:111589090-111589140	HRPEpiC	eye:	n/a
17	chr13:111589040-111589090	U87	brain:	n/a
18	chr13:111589153-111589203	K562	blood:	n/a
19	chr13:111589090-111589140	HCM	heart:	n/a
20	chr13:111589153-111589203	HAEpiC	amniotic membrane:	n/a
21	chr13:111589090-111589140	ovcar-3	ovarian:	n/a
22	chr13:111589153-111589203	SK-N-SH	brain:	n/a
23	chr13:111589090-111589140	HNPCEpiC	eye:	n/a
24	chr13:111589153-111589203	Hela-S3	cervix:	n/a
25	chr13:111589153-111589203	HCF	heart:	n/a
26	chr13:111589153-111589203	HepG2	liver:	n/a
27	chr13:111589153-111589203	HRE	kidney:	n/a
28	chr13:111589040-111589090	H1-hESC	embryonic stem cell:	embryo
29	chr13:111589040-111589090	AG10803	skin:	n/a
30	chr13:111589153-111589203	NT2-D1	testis:	n/a
31	chr13:111589153-111589203	HCPEpiC	choroid plexus:	n/a
32	chr13:111589040-111589090	Caco-2	colon:	n/a
33	chr13:111589040-111589090	AG09309	skin:	n/a
34	chr13:111589040-111589090	HCM	heart:	n/a
35	chr13:111589090-111589140	HAEpiC	amniotic membrane:	n/a
36	chr13:111589153-111589203	AG04450	lung:	fetal
37	chr13:111589090-111589140	Caco-2	colon:	n/a
38	chr13:111589090-111589140	HCF	heart:	n/a
39	chr13:111589040-111589090	AG04449	skin:	fetal
40	chr13:111589090-111589140	GM19239	blood:	n/a
41	chr13:111589040-111589090	A549	lung:	n/a
42	chr13:111589090-111589140	AoSMC	blood vessel:	n/a
43	chr13:111589153-111589203	HCT-116	colon:	n/a
44	chr13:111589090-111589140	SAEC	small airway:	n/a
45	chr13:111589040-111589090	ovcar-3	ovarian:	n/a
46	chr13:111589090-111589140	PFSK-1	brain:	n/a
47	chr13:111589090-111589140	PANC-1	pancreas:	n/a
48	chr13:111589153-111589203	IMR90	lung:	fetal
49	chr13:111589040-111589090	HUVEC	blood vessel:	n/a
50	chr13:111589090-111589140	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr13:111589374..111593348-chr13:111595009..111596753,3	K562	blood:
2	chr13:111567471..111569469-chr13:111585277..111587944,2	MCF-7	breast:
3	chr13:111589463..111592120-chr13:111592601..111596549,3	K562	blood:
4	chr13:111585239..111587971-chr13:111587983..111589782,2	MCF-7	breast:

No data

Variant related genes	Relation type
PARP1P1	TF binding region
PARP1P1	CpG island
ENSG00000227105	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542841721	chr13:111587100-111587101	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75786163	chr13:111587177-111587178	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78387309	chr13:111587181-111587182	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150932109	chr13:111587191-111587192	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573068401	chr13:111587200-111587201	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140675811	chr13:111587214-111587215	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565528661	chr13:111587292-111587293	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113204692	chr13:111587353-111587354	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532801829	chr13:111587394-111587395	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187909866	chr13:111587428-111587429	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs9583556	chr13:111587429-111587430	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145886808	chr13:111587450-111587451	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530597085	chr13:111587462-111587463	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs191257707	chr13:111587464-111587465	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147793203	chr13:111587517-111587518	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs567482360	chr13:111587541-111587542	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528259228	chr13:111587547-111587548	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs183714886	chr13:111587548-111587549	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs79459193	chr13:111587558-111587559	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538705790	chr13:111587576-111587577	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551819775	chr13:111587609-111587610	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375996632	chr13:111587615-111587616	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141360310	chr13:111587690-111587691	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569045520	chr13:111587697-111587698	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540427653	chr13:111587775-111587776	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113277989	chr13:111587802-111587803	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539289883	chr13:111587814-111587815	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186946943	chr13:111587830-111587831	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554617512	chr13:111587888-111587889	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573361503	chr13:111587925-111587926	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532652344	chr13:111588014-111588015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552359243	chr13:111588017-111588018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4773282	chr13:111588050-111588051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138108012	chr13:111588082-111588083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577460238	chr13:111588106-111588107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4773283	chr13:111588122-111588123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563256810	chr13:111588168-111588169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143161503	chr13:111588169-111588170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9555746	chr13:111588223-111588224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560917769	chr13:111588237-111588238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192942853	chr13:111588267-111588268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142730762	chr13:111588273-111588274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565061688	chr13:111588278-111588279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146102304	chr13:111588301-111588302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550427682	chr13:111588302-111588303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138854878	chr13:111588303-111588304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536200146	chr13:111588321-111588322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548287657	chr13:111588346-111588347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566949075	chr13:111588349-111588350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534177674	chr13:111588350-111588351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	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
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111586400-111588000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:111586600-111589000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:111589000-111589600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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