Variant report

Variant	nsv561630
Chromosome Location	chr13:50525141-50545402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:50531695-50531988	HepG2	liver:	n/a	chr13:50531837-50531848
2	CEBPB	chr13:50532232-50532454	HepG2	liver:	n/a	chr13:50532354-50532365
3	CEBPB	chr13:50532226-50532503	A549	lung:	n/a	chr13:50532354-50532365
4	CEBPB	chr13:50531797-50531868	A549	lung:	n/a	chr13:50531837-50531848
5	CEBPB	chr13:50532217-50532509	IMR90	lung:	n/a	chr13:50532354-50532365
6	CEBPB	chr13:50531835-50531865	Hela-S3	cervix:	n/a	chr13:50531837-50531848
7	CTCF	chr13:50542160-50542310	AG04450	lung:	n/a	n/a
8	FAM48A	chr13:50537222-50537333	GM12878	blood:	n/a	n/a
9	GATA3	chr13:50527595-50528153	MCF-7	breast:	n/a	n/a
10	HDAC2	chr13:50527799-50528128	MCF-7	breast:	n/a	n/a
11	JUN	chr13:50531468-50531671	HepG2	liver:	n/a	chr13:50531519-50531532
12	JUND	chr13:50531418-50531648	HepG2	liver:	n/a	n/a
13	MAFF	chr13:50531058-50531167	HepG2	liver:	n/a	n/a
14	MAFK	chr13:50531070-50531223	IMR90	lung:	n/a	n/a
15	MAFK	chr13:50531009-50531265	HepG2	liver:	n/a	n/a
16	MAFK	chr13:50531033-50531288	HepG2	liver:	n/a	n/a
17	MYC	chr13:50531674-50531694	MCF-7	breast:	n/a	n/a
18	NR2F2	chr13:50527670-50528050	MCF-7	breast:	n/a	n/a
19	PAX5	chr13:50530192-50530360	GM12878	blood:	n/a	n/a
20	POLR2A	chr13:50527850-50527960	MCF-7	breast:	n/a	n/a
21	POLR2A	chr13:50540147-50540280	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr13:50542386-50542392	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr13:50531691-50531706	MCF-7	breast:	n/a	n/a
24	POLR2A	chr13:50531107-50531300	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr13:50528654-50528850	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr13:50537810-50537975	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr13:50527082-50527359	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr13:50542336-50542344	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr13:50528813-50528850	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr13:50531532-50531538	MCF-7	breast:	n/a	n/a
31	POLR2A	chr13:50544864-50544867	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr13:50541418-50541426	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr13:50527246-50527342	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr13:50531806-50531984	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr13:50538618-50538711	ProgFib	skin:	n/a	n/a
36	POLR2A	chr13:50531574-50531579	MCF-7	breast:	n/a	n/a
37	POLR2A	chr13:50535861-50535989	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr13:50532987-50533000	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr13:50531612-50531679	MCF-7	breast:	n/a	n/a
40	POLR2A	chr13:50526537-50526593	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr13:50537657-50537725	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr13:50531541-50531553	MCF-7	breast:	n/a	n/a
43	POLR2A	chr13:50527862-50527863	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr13:50540515-50540541	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr13:50529183-50529591	U87	brain:	n/a	n/a
46	RFX5	chr13:50529413-50529429	HepG2	liver:	n/a	n/a
47	SETDB1	chr13:50537319-50537988	U2OS	brain:	n/a	n/a
48	SPI1	chr13:50527115-50527501	HL-60	blood:	n/a	n/a
49	SPI1	chr13:50530347-50530802	HL-60	blood:	n/a	n/a
50	SPI1	chr13:50527200-50527432	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50527779..50530040-chr13:50569450..50572377,2	MCF-7	breast:
2	chr13:50531043..50532904-chr13:50944878..50946623,2	K562	blood:
3	chr13:50531429..50533687-chr13:50538625..50541399,2	K562	blood:
4	chr13:50541041..50543256-chr13:50570099..50571852,2	MCF-7	breast:
5	chr13:50541396..50543850-chr13:51484006..51485830,2	MCF-7	breast:
6	chr13:50531429..50533687-chr13:50538625..50541399,2	K562	blood:
7	chr13:50543750..50545594-chr13:50547899..50550003,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM13-5	chr13:50527614-50528204	NONHSAT033773
2	lnc-SPRYD7-1	chr13:50530843-50531031	NONHSAT033774
3	lnc-SPRYD7-1	chr13:50530843-50531031	NONHSAT140129
4	lnc-SPRYD7-1	chr13:50526411-50531031	NONHSAT033771
5	lnc-TRIM13-6	chr13:50526012-50526657	NONHSAT033770

No data

Variant related genes	Relation type
ENSG00000264526	TF binding region
ENSG00000204977	chromatin interactions
ENSG00000264864	chromatin interactions
ENSG00000233672	chromatin interactions

Extended variants
information (count: 599 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547204556	chr13:50525165-50525166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533748825	chr13:50525279-50525280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200921159	chr13:50525286-50525287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180750368	chr13:50525306-50525307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529792520	chr13:50525307-50525308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548019028	chr13:50525308-50525309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61960451	chr13:50525309-50525310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs569616681	chr13:50525443-50525444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367706070	chr13:50525444-50525445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550465913	chr13:50525567-50525568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571983534	chr13:50525577-50525578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547934984	chr13:50525604-50525605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114181982	chr13:50525628-50525629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554350145	chr13:50525630-50525631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572600089	chr13:50525632-50525633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568051458	chr13:50525646-50525647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151337761	chr13:50525653-50525654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554800523	chr13:50525663-50525664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544565332	chr13:50525696-50525697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377389878	chr13:50525698-50525699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185140352	chr13:50525707-50525708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543434173	chr13:50525735-50525736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9568362	chr13:50525757-50525758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558396302	chr13:50525802-50525803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576728540	chr13:50525844-50525845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541013499	chr13:50525857-50525858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559489591	chr13:50525862-50525863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188291143	chr13:50525903-50525904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139345942	chr13:50525956-50525957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563258135	chr13:50525974-50525975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145573962	chr13:50525985-50525986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552207737	chr13:50526030-50526031	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs147790883	chr13:50526033-50526034	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs532854059	chr13:50526044-50526045	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs547818883	chr13:50526122-50526123	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs181116401	chr13:50526140-50526141	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs536475051	chr13:50526147-50526148	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs577643888	chr13:50526148-50526149	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs540114211	chr13:50526158-50526159	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs141235418	chr13:50526196-50526197	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs537008202	chr13:50526212-50526213	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs553551709	chr13:50526230-50526231	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs558525421	chr13:50526240-50526241	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs186530869	chr13:50526305-50526306	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs372198522	chr13:50526432-50526433	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs146921012	chr13:50526459-50526460	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs542320905	chr13:50526469-50526470	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs536043179	chr13:50526522-50526523	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs541673038	chr13:50526523-50526524	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs34600688	chr13:50526545-50526546	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50511400-50537800	Weak transcription	Left Ventricle	heart
2	chr13:50513400-50532600	Weak transcription	Ovary	ovary
3	chr13:50513400-50532800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:50522400-50550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:50525000-50530000	Enhancers	Placenta	Placenta
6	chr13:50525800-50526600	Enhancers	Fetal Intestine Large	intestine
7	chr13:50525800-50526600	Enhancers	Fetal Intestine Small	intestine
8	chr13:50525800-50532600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr13:50526200-50526600	Enhancers	HepG2	liver
10	chr13:50526200-50527000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr13:50526200-50530000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr13:50526400-50526600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:50526400-50527200	Enhancers	Colonic Mucosa	Colon
14	chr13:50526600-50527800	Weak transcription	Fetal Intestine Large	intestine
15	chr13:50526600-50528600	Weak transcription	Fetal Intestine Small	intestine
16	chr13:50526600-50529000	Weak transcription	HepG2	liver
17	chr13:50527000-50528600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:50527600-50528000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:50527800-50528000	Enhancers	Fetal Intestine Large	intestine
20	chr13:50527800-50528200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr13:50528000-50528200	Enhancers	HSMMtube	muscle
22	chr13:50528000-50528400	Weak transcription	Fetal Intestine Large	intestine
23	chr13:50528000-50529400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:50528200-50528800	Weak transcription	HSMMtube	muscle
25	chr13:50528400-50530000	Enhancers	Fetal Intestine Large	intestine
26	chr13:50528600-50529000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr13:50528600-50529800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:50528600-50530200	Enhancers	Fetal Intestine Small	intestine
29	chr13:50528600-50530400	Enhancers	Stomach Mucosa	stomach
30	chr13:50528800-50530000	Enhancers	HSMMtube	muscle
31	chr13:50529000-50529200	Enhancers	Colonic Mucosa	Colon
32	chr13:50529000-50529400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:50529000-50529400	Weak transcription	Aorta	Aorta
34	chr13:50529000-50529400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr13:50529000-50529400	Enhancers	Small Intestine	intestine
36	chr13:50529000-50529600	Enhancers	Right Atrium	heart
37	chr13:50529000-50529800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:50529000-50529800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:50529000-50529800	Enhancers	HepG2	liver
40	chr13:50529200-50529400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:50529200-50529400	Enhancers	Fetal Muscle Leg	muscle
42	chr13:50529200-50529400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr13:50529200-50529600	Enhancers	Psoas Muscle	Psoas
44	chr13:50529200-50529800	Enhancers	Duodenum Mucosa	Duodenum
45	chr13:50529200-50529800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr13:50529200-50530400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr13:50529400-50529600	Enhancers	Aorta	Aorta
48	chr13:50529400-50529600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr13:50529400-50530600	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr13:50529400-50531000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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